Variants of CFTR located in non-coding regions

Variation	Location	Effect	Review status	URL
c.-947g	promoter; see TF sites	?	5'UTR	CFTR1
c.-887C>T	promoter; see TF sites	?	not provided	ClinVar
c.-812T>G	promoter; see TF sites	?	not provided	ClinVar
c.-495C>T	promoter; see TF sites	?	not provided	ClinVar
c.-461A>G	promoter; see TF sites	N	Likely benign	ClinVar
c.-9_14del23	promoter; see TF sites	D	CF-causing	CFTR2
c.-8G>C	promoter; see TF sites	N	Benign	ClinVar
c.-4G>C	promoter; see TF sites	N	Likely benign	ClinVar
c.(?_1)_(53+1_54-1)del	promoter; see TF sites	D	CF-causing	CFTR2
c.53+1G>T	intron 1	D	Likely pathogenic	ClinVar
c.53+1G>T	intron 1	D	CF-causing	CFTR2
c.53+4A>T	intron 1	?	not provided	ClinVar
c.54-5940_273+10250del21kb	intron 1	D	CF-causing	CFTR2
c.54-13C>G	intron 1	?	not provided	ClinVar
c.164+1G>A	intron 2	?	not provided	ClinVar
c.164+1G>A	intron 2	D	CF-causing	CFTR2
c.164+1G>C	intron 2	?	not provided	ClinVar
c.164+1G>T	intron 2	?	not provided	ClinVar
c.164+1G>T	intron 2	D	CF-causing	CFTR2
c.164+2T>A	intron 2	?	not provided	ClinVar
c.164+2T>C	intron 2	?	not provided	ClinVar
c.164+2T>G	intron 2	?	not provided	ClinVar
c.164+9A>T	intron 2	?	not provided	ClinVar
c.164+12T>C	intron 2	?	not provided	ClinVar
c.165-50A>G	intron 2	?	not provided	ClinVar
c.165-10T>G	intron 2	?	not provided	ClinVar
c.165-3C>A	intron 2	?	not provided	ClinVar
c.165-3C>T	intron 2	D	Likely pathogenic	ClinVar
c.165-1G>A	intron 2	?	not provided	ClinVar
c.165-1G>A	intron 2	D	CF-causing	CFTR2
c.273+1G>A	intron 3	D	Pathogenic	ClinVar
c.273+1G>A	intron 3	D	CF-causing	CFTR2
c.273+3A>C	intron 3	D	Likely pathogenic	ClinVar
c.273+3A>C	intron 3	D	CF-causing	CFTR2
c.273+4A>G	intron 3	D	Pathogenic	ClinVar
c.274-10C>G	intron 3	?	not provided	ClinVar
c.274-2A>G	intron 3	?	not provided	ClinVar
c.274-1G>A	intron 3	D	Pathogenic	ClinVar
c.274-1G>A	intron 3	D	CF-causing	CFTR2
c.274-1G>C	intron 3	?	not provided	ClinVar
c.274-1G>T	intron 3	?	not provided	ClinVar
c.489+1G>T	intron 4	D	Pathogenic	ClinVar
c.489+1G>T	intron 4	D	CF-causing	CFTR2
c.489+2T>C	intron 4	?	not provided	ClinVar
c.489+2T>G	intron 4	?	not provided	ClinVar
c.489+3A>G	intron 4	?	Varying clinical consequence	CFTR2
c.489+8T>C	intron 4	N	Likely benign	ClinVar
c.490-116A>G	intron 4	?	not provided	ClinVar
c.490-2A>G	intron 4	?	not provided	ClinVar
c.490-1G>A	intron 4	?	not provided	ClinVar
c.579+1G>T	intron 5	D	Pathogenic	ClinVar
c.579+1G>T	intron 5	D	CF-causing	CFTR2
c.579+3A>C	intron 5	?	not provided	ClinVar
c.579+3A>G	intron 5	D	Pathogenic	ClinVar
c.579+3A>G	intron 5	D	CF-causing	CFTR2
c.579+3A>T	intron 5	?	not provided	ClinVar
c.579+5G>A	intron 5	D	Pathogenic	ClinVar
c.579+5G>A	intron 5	D	CF-causing	CFTR2
c.580-92T>A	intron 5	?	not provided	ClinVar
c.580-1G>T	intron 5	D	Pathogenic	ClinVar
c.580-1G>T	intron 5	D	CF-causing	CFTR2
c.743+1G>A	intron 6	?	not provided	ClinVar
c.743+1G>C	intron 6	D	Likely pathogenic	ClinVar
c.743+4G>T	intron 6	?	Uncertain significance	ClinVar
c.869+11C>T	intron 7	N	Benign	ClinVar
c.870-3T>G	intron 7	?	not provided	ClinVar
c.1116+1G>A	intron 8	D	Pathogenic	ClinVar
c.1116+1G>A	intron 8	D	CF-causing	CFTR2
c.1116+1G>C	intron 8	?	not provided	ClinVar
c.1116+17C>T	intron 8	?	not provided	ClinVar
c.1117-1G>A	intron 8	D	CF-causing	CFTR2
c.1209+1G>A	intron 9	D	Pathogenic	ClinVar
c.1209+1G>A	intron 9	D	CF-causing	CFTR2
c.1209+18A>C	intron 9	?	Uncertain significance	ClinVar
c.1210-13G>T	intron 9	N	Benign	ClinVar
c.1210-11T>G	intron 9	D	Likely pathogenic	ClinVar
c.1210-2A>C	intron 9	?	not provided	ClinVar
c.1210-1G>C	intron 9	?	not provided	ClinVar
c.1392+1G>A	intron 10	?	not provided	ClinVar
c.1393-18G>A	intron 10	?	not provided	ClinVar
c.1393-2A>G	intron 10	?	not provided	ClinVar
c.1393-2A>G	intron 10	D	CF-causing	CFTR2
c.1393-1G>A	intron 10	D	Pathogenic	ClinVar
c.1393-1G>A	intron 10	D	CF-causing	CFTR2
c.1584+1G>A	intron 11	?	not provided	ClinVar
c.1584+1G>T	intron 11	?	not provided	ClinVar
c.1584+2T>C	intron 11	?	not provided	ClinVar
c.1584+12T>C	intron 11	?	Uncertain significance	ClinVar
c.1584+18672A>G	intron 11	?	not provided	ClinVar
c.1585-9T>A	intron 11	?	not provided	ClinVar
c.1585-8G>A	intron 11	D	Pathogenic	ClinVar
c.1585-8G>A	intron 11	D	CF-causing	CFTR2
c.1585-2A>G	intron 11	?	not provided	ClinVar
c.1585-1G>A	intron 11	D	Pathogenic	ClinVar
c.1585-1G>A	intron 11	D	CF-causing	CFTR2
c.1679+1.6kbA>G	intron 12	D	CF-causing	CFTR2
c.1679+1G>A	intron 12	D	CF-causing	CFTR2
c.1679+1G>C	intron 12	?	not provided	ClinVar
c.1679+1G>C	intron 12	D	CF-causing	CFTR2
c.1679+5A>G	intron 12	?	not provided	ClinVar
c.1679+16T>C	intron 12	?	not provided	ClinVar
c.1679+18G>A	intron 12	?	not provided	ClinVar
c.1680-981T>C	intron 12	?	not provided	ClinVar
c.1680-886A>G	intron 12	?	not provided	ClinVar
c.1679+1643G>T	intron 12	?	not provided	ClinVar
c.1680-870T>A	intron 12	N	Benign	ClinVar
c.1680-26T>C	intron 12	?	not provided	ClinVar
c.1680-1G>A	intron 12	D	Pathogenic	ClinVar
c.1680-1G>A	intron 12	D	CF-causing	CFTR2
c.1766+1G->C	intron 13	D	CF-causing	CFTR2
c.1766+1G>A	intron 13	D	CF-causing	CFTR2
c.1766+1G>C	intron 13	?	not provided	ClinVar
c.1766+1G>T	intron 13	?	not provided	ClinVar
c.1766+3A>C	intron 13	?	not provided	ClinVar
c.1766+3A>G	intron 13	D	Pathogenic	ClinVar
c.1766+3A>G	intron 13	D	CF-causing	CFTR2
c.1766+5G>A	intron 13	?	not provided	ClinVar
c.1766+5G>T	intron 13	?	not provided	ClinVar
c.1766+73T>G	intron 13	?	not provided	ClinVar
c.2490+1G>A	intron 14	D	Pathogenic	ClinVar
c.2490+1G>A	intron 14	D	CF-causing	CFTR2
c.2491-23A>G	intron 14	?	not provided	ClinVar
c.2491-11C>T	intron 14	?	not provided	ClinVar
c.2491-2A>G	intron 14	?	not provided	ClinVar
c.2619+2T>A	intron 15	?	not provided	ClinVar
c.2619+3A>G	intron 15	?	not provided	ClinVar
c.2620-26A>G	intron 15	?	not provided	ClinVar
c.2620-26A>G	intron 15	?	Varying clinical consequence	CFTR2
c.2620-15C>G	intron 15	?	Uncertain significance	ClinVar
c.2620-6T>C	intron 15	?	not provided	ClinVar
c.2620-1G>C	intron 15	?	not provided	ClinVar
c.2620-1G>T	intron 15	?	not provided	ClinVar
c.2657+2_2657+3insA	intron 16	?	Unknown significance	CFTR2
c.2657+5G>A	intron 16	D	Pathogenic	ClinVar
c.2657+5G>A	intron 16	D	CF-causing	CFTR2
c.2658-107G>C	intron 16	?	not provided	ClinVar
c.2658-1G>C	intron 16	D	CF-causing	CFTR2
c.2658-1G>T	intron 16	?	not provided	ClinVar
c.2908+2T>C	intron 17	?	not provided	ClinVar
c.2909-15T>G	intron 17	?	not provided	ClinVar
c.2909-4A>G	intron 17	?	not provided	ClinVar
c.2909-1G>A	intron 17	?	not provided	ClinVar
c.2988+1G>A	intron 18	D	Pathogenic	ClinVar
c.2988+1G>A	intron 18	D	CF-causing	CFTR2
c.2989-977_3367+248del	intron 18	D	CF-causing	CFTR2
c.2989-3C>G	intron 18	?	not provided	ClinVar
c.2989-2A>G	intron 18	?	not provided	ClinVar
c.2989-2A>G	intron 18	D	CF-causing	CFTR2
c.2989-2A>T	intron 18	D	Likely pathogenic	ClinVar
c.2989-1G>A	intron 18	D	Pathogenic	ClinVar
c.2989-1G>A	intron 18	D	CF-causing	CFTR2
c.3139+1G>A	intron 19	?	not provided	ClinVar
c.3139+1G>T	intron 19	?	not provided	ClinVar
c.3139+8A>G	intron 19	?	Uncertain significance	ClinVar
c.3139+18C>T	intron 19	?	Uncertain significance	ClinVar
c.3139+101C>G	intron 19	?	not provided	ClinVar
c.3140-26A>G	intron 19	D	Pathogenic	ClinVar
c.3140-26A>G	intron 19	D	CF-causing	CFTR2
c.3140-4A>G	intron 19	?	not provided	ClinVar
c.3140-1G>A	intron 19	?	not provided	ClinVar
c.3367+2T>C	intron 20	?	not provided	ClinVar
c.3367+6A>G	intron 20	?	not provided	ClinVar
c.3368-2A>G	intron 20	D	Likely pathogenic	ClinVar
c.3368-2A>G	intron 20	D	CF-causing	CFTR2
c.3368-1G>A	intron 20	?	not provided	ClinVar
c.3469-20T>C	intron 21	D	Pathogenic	ClinVar
c.3469-17T>C	intron 21	?	not provided	ClinVar
c.3469-2A>G	intron 21	?	not provided	ClinVar
c.3717+4A>G	intron 22	D	Pathogenic	ClinVar
c.3717+4A>G	intron 22	D	CF-causing	CFTR2
c.3717+5G>A	intron 22	D	Likely pathogenic	ClinVar
c.3717+40A>G	intron 22	?	not provided	ClinVar
c.3717+45G>A	intron 22	?	not provided	ClinVar
c.3717+12191C>T	intron 22	D	Pathogenic	ClinVar
c.3717+12191C>T	intron 22	D	CF-causing	CFTR2
c.3718-79T>C	intron 22	?	not provided	ClinVar
c.3718-3T>G	intron 22	?	not provided	ClinVar
c.3718-3T>G	intron 22	D	CF-causing	CFTR2
c.3718-1G>A	intron 22	D	Pathogenic	ClinVar
c.3718-1G>A	intron 22	D	CF-causing	CFTR2
c.3873+1G>A	intron 23	D	Pathogenic	ClinVar
c.3873+1G>A	intron 23	D	CF-causing	CFTR2
c.3873+2T>C	intron 23	?	not provided	ClinVar
c.3873+33A>G	intron 23	?	not provided	ClinVar
c.3874-14C>G	intron 23	?	not provided	ClinVar
c.3874-8T>A	intron 23	?	not provided	ClinVar
c.3874-4A>G	intron 23	?	not provided	ClinVar
c.3874-1G>A	intron 23	?	not provided	ClinVar
c.3963+1G>A	intron 24	D	Pathogenic	ClinVar
c.3963+2T>A	intron 24	?	not provided	ClinVar
c.3964-78_4242+577del	intron 24	D	CF-causing	CFTR2
c.3964-28G>A	intron 24	?	not provided	ClinVar
c.3964-16T>C	intron 24	?	Uncertain significance	ClinVar
c.3964-3C>G	intron 24	?	not provided	ClinVar
c.4242+1G>A	intron 26	?	not provided	ClinVar
c.4242+1G>A	intron 26	D	CF-causing	CFTR2
c.4242+1G>T	intron 26	D	Likely pathogenic	ClinVar
c.4242+1G>T	intron 26	D	CF-causing	CFTR2
c.4242+2T>C	intron 26	D	Likely pathogenic	ClinVar
c.4242+10T>C	intron 26	N	Benign	ClinVar
c.4242+13A>G	intron 26	N	Benign	ClinVar
c.4243-2A>C	intron 26	?	not provided	ClinVar
c.4243-1G>C	intron 26	?	not provided	ClinVar