Variants of ABCC6 located in coding regions

! These entries do not include the mined mutations.

Variation	Location	Effect	Review status	URL
p.Trp38Ser	exon 2	D		LOVD
p.Gly61Asp	exon 2	D		LOVD
p.Ala78Thr	exon 3	D		LOVD
p.Glu125*	exon 4	D		LOVD
p.Glu125Lys	exon 4	D		LOVD
p.Gly129Glu	exon 4	D		LOVD
p.Ala158Val	exon 4	D		LOVD
p.Gln199*	exon 5	D		LOVD
p.Gly207Arg	exon 6	D		LOVD
p.Trp218Cys	exon 6	D		LOVD
p.Gly226Arg	exon 7	D		LOVD
p.Tyr227*	exon 7	D		LOVD
p.Glu242*	exon 7	D		LOVD
p.Leu248Phe	exon 7	D		LOVD
p.Leu252Phe	exon 7	D		LOVD
p.Arg265Gly	exon 7	N	Likely benign	ClinVar
p.Arg265Gly	exon 7	D		LOVD
p.Lys281Glu	exon 8	D		LOVD
p.Ser317Arg	exon 8	D		LOVD
p.Ile319Val	exon 8	D		LOVD
p.Leu355Arg	exon 9	D		LOVD
p.Gln363*	exon 9	D		LOVD
p.Thr364Arg	exon 9	D		LOVD
p.Thr364Met	exon 9	D		LOVD
p.Asn370Asp	exon 9	D		LOVD
p.Gln378*	exon 9	D		LOVD
p.Arg382Trp	exon 9	D		LOVD
p.Arg391Gly	exon 9	D		LOVD
p.Lys392Asn	exon 9	D		LOVD
p.Ser398Arg	exon 10	D		LOVD
p.Ser398Gly	exon 10	D		LOVD
p.Ser400Phe	exon 10	D		LOVD
p.Asn411Lys	exon 10	D		LOVD
p.Asn411=	exon 10	N	Likely benign	ClinVar
p.Val415Ala	exon 10	D		LOVD
p.Leu420Val	exon 10	D		LOVD
p.Cys440Gly	exon 10	D		LOVD
p.Ala455Pro	exon 11	D		LOVD
p.Leu463His	exon 11	D		LOVD
p.Asn466Tyr	exon 11	D		LOVD
p.Arg487Gln	exon 12	D		LOVD
p.Leu495His	exon 12	D		LOVD
p.Asn497Lys	exon 12	D		LOVD
p.Thr500Pro	exon 12	D		LOVD
p.Lys502Met	exon 12	D		LOVD
p.Val514Ile	exon 12	D		LOVD
p.Arg518*	exon 12	D	Pathogenic	ClinVar
p.Arg518*	exon 12	D		LOVD
p.Arg518Gln	exon 12	D		LOVD
p.Glu521Asp	exon 12	D		LOVD
p.Ser535Pro	exon 12	D		LOVD
p.Phe551Ser	exon 13	D		LOVD
p.Met562Thr	exon 13	D		LOVD
p.Phe568Ser	exon 13	D		LOVD
p.Ser587Cys	exon 13	N	Likely benign	ClinVar
p.Ala594Val	exon 14	D		LOVD
p.Arg600Cys	exon 14	D		LOVD
p.Val614Ala	exon 14	D		LOVD
p.His632Gln	exon 15	D		LOVD
p.Gln655Arg	exon 16	D		LOVD
p.Gly663Cys	exon 16	D		LOVD
p.Pro664Ser	exon 16	D		LOVD
p.Gly666Trp	exon 16	D		LOVD
p.Leu673Pro	exon 16	D		LOVD
p.Leu677Pro	exon 16	D		LOVD
p.Gln698Pro	exon 17	D		LOVD
p.Glu699Asp	exon 17	D		LOVD
p.Trp721*	exon 17	D		LOVD
p.Arg724Lys	exon 17	D		LOVD
p.Leu726Pro	exon 17	D		LOVD
p.Ile742Val	exon 17	D		LOVD
p.Gln749*	exon 17	D		LOVD
p.Gly750Ser	exon 18	D		LOVD
p.Met751Lys	exon 18	D		LOVD
p.Leu753Pro	exon 18	D		LOVD
p.Gly755Arg	exon 18	D		LOVD
p.Arg760Gln	exon 18	D		LOVD
p.Arg760Trp	exon 18	D		LOVD
p.Arg765Gln	exon 18	D		LOVD
p.Arg765Trp	exon 18	D		LOVD
p.Arg765Gln	exon 18	D	Pathogenic	ClinVar
p.Ala766Asp	exon 18	D		LOVD
p.Tyr768*	exon 18	D		LOVD
p.Asp777Asn	exon 18	D		LOVD
p.Ala781Val	exon 18	D		LOVD
p.Val787Ile	exon 18	D		LOVD
p.Asn793Leu	exon 18	D		LOVD
p.Arg807Gln	exon 19	D		LOVD
p.Arg807Trp	exon 19	D		LOVD
p.Val810Met	exon 19	D		LOVD
p.Thr811Met	exon 19	D		LOVD
p.Ala820Pro	exon 19	D		LOVD
p.Leu826Pro	exon 19	D		LOVD
p.Tyr837*	exon 19	D		LOVD
p.Gln842*	exon 19	D		LOVD
p.Leu851Pro	exon 19	D		LOVD
p.Arg881Ser	exon 20	D		LOVD
p.Tyr938*	exon 22	D		LOVD
p.Thr944Ile	exon 22	D		LOVD
p.Leu946Ile	exon 22	D		LOVD
p.Ala950Thr	exon 22	D		LOVD
p.Phe952Cys	exon 22	D		LOVD
p.Leu953His	exon 22	D		LOVD
p.Arg964Pro	exon 22	D		LOVD
p.Gln981His	exon 22	D		LOVD
p.Gly992Arg	exon 22	D		LOVD
p.Leu1025Pro	exon 23	D		LOVD
p.Arg1030*	exon 23	D		LOVD
p.Ser1049Ala	exon 23	D		LOVD
p.Asp1056Glu	exon 23	D		LOVD
p.Leu1063Arg	exon 23	D		LOVD
p.Arg1064Trp	exon 23	D		LOVD
p.Tyr1069*	exon 23	D		LOVD
p.Arg1114Cys	exon 24	D		LOVD
p.Arg1114His	exon 24	D		LOVD
p.Arg1114Pro	exon 24	D		LOVD
p.Arg1114Pro	exon 24	D	Pathogenic	ClinVar
p.Ser1121Leu	exon 24	D		LOVD
p.Ser1121Trp	exon 24	D		LOVD
p.Met1127Ile	exon 24	D		LOVD
p.Met1127Thr	exon 24	D		LOVD
p.Thr1130Met	exon 24	D		LOVD
p.Thr1130Met	exon 24	D	Pathogenic	ClinVar
p.Gly1133Ala	exon 24	D		LOVD
p.Arg1138Gln	exon 24	D		LOVD
p.Arg1138Pro	exon 24	D		LOVD
p.Arg1138Trp	exon 24	D	Pathogenic	ClinVar
p.Arg1138Trp	exon 24	D		LOVD
p.Arg1138Gln	exon 24	D	Pathogenic	ClinVar
p.Ala1139Thr	exon 24	D		LOVD
p.Arg1141*	exon 24	D	Pathogenic	ClinVar
p.Arg1141*	exon 24	D		LOVD
p.Gln1143*	exon 24	D		LOVD
p.Arg1164*	exon 24	D	Pathogenic	ClinVar
p.Arg1164*	exon 24	D		LOVD
p.Arg1164Gln	exon 24	D		LOVD
p.Gly1203Asp	exon 25	D		LOVD
p.Arg1221Cys	exon 26	D		LOVD
p.Arg1221His	exon 26	D		LOVD
p.Trp1223*	exon 26	D		LOVD
p.Leu1226Ile	exon 26	D		LOVD
p.Arg1235Trp	exon 26	D		LOVD
p.Gln1237*	exon 26	D		LOVD
p.Asp1238His	exon 26	D	Pathogenic	ClinVar
p.Asp1238His	exon 26	D		LOVD
p.Tyr1239*	exon 26	D		LOVD
p.Tyr1239His	exon 26	D		LOVD
p.Trp1241*	exon 26	D		LOVD
p.Trp1241Cys	exon 26	D		LOVD
p.Glu1245Asp	exon 26	D		LOVD
p.Gly1263Arg	exon 27	D		LOVD
p.Arg1268Gln	exon 27	D		LOVD
p.Arg1268Gln	exon 27	?	Conflicting interpretations of pathogenicity	ClinVar
p.Arg1273Lys	exon 27	D		LOVD
p.Arg1275*	exon 27	D		LOVD
p.Ala1291Thr	exon 27	D		LOVD
p.Glu1293Lys	exon 27	D		LOVD
p.Val1298Phe	exon 28	D	Pathogenic	ClinVar
p.Val1298Phe	exon 28	D		LOVD
p.Gly1299Ser	exon 28	D		LOVD
p.Thr1301Ile	exon 28	D		LOVD
p.Gly1302Arg	exon 28	D	Pathogenic	ClinVar
p.Gly1302Arg	exon 28	D		LOVD
p.Ala1303Pro	exon 28	D		LOVD
p.Ser1307Pro	exon 28	D		LOVD
p.Gly1311Glu	exon 28	D		LOVD
p.Arg1314Gln	exon 28	D		LOVD
p.Arg1314Trp	exon 28	D	Pathogenic	ClinVar
p.Arg1314Trp	exon 28	D		LOVD
p.Gly1321Ser	exon 28	D	Pathogenic	ClinVar
p.Gly1321Ser	exon 28	D		LOVD
p.Trp1324*	exon 28	D		LOVD
p.Asp1326Asn	exon 28	D		LOVD
p.Leu1335Gln	exon 28	D		LOVD
p.Leu1335Pro	exon 28	D		LOVD
p.Arg1339Cys	exon 28	D	Pathogenic	ClinVar
p.Arg1339Cys	exon 28	D		LOVD
p.Arg1339His	exon 28	D		LOVD
p.Arg1339Leu	exon 28	D		LOVD
p.Ile1342Thr	exon 28	D		LOVD
p.Pro1346Ser	exon 28	D		LOVD
p.Gln1347His	exon 28	D		LOVD
p.Ile1350Leu	exon 29	D		LOVD
p.Gly1354Arg	exon 29	D		LOVD
p.Arg1357Trp	exon 29	N	Likely benign	ClinVar
p.Arg1357Trp	exon 29	D		LOVD
p.Asp1361Asn	exon 29	D		LOVD
p.Lys1394Asn	exon 29	D		LOVD
p.Asp1397Asn	exon 29	D		LOVD
p.Arg1398*	exon 29	D		LOVD
p.Glu1400Lys	exon 29	D		LOVD
p.Ser1403Arg	exon 29	D		LOVD
p.Gly1405Ser	exon 30	D		LOVD
p.Gln1406Lys	exon 30	D	Pathogenic	ClinVar
p.Arg1418Gln	exon 30	D		LOVD
p.Ile1424Thr	exon 30	D		LOVD
p.Arg1459Cys	exon 30	D	Pathogenic	ClinVar
p.Arg1459Cys	exon 30	D		LOVD
p.Lys1474*	exon 31	D		LOVD
p.Gly1481Ser	exon 31	D		LOVD
p.Pro1483Leu	exon 31	D		LOVD
p.Gly1501Ser	exon 31	D		LOVD

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