ClinVar Miner

List of variants in gene ABCC6 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.346-7C>T rs528654660 0.00111
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.4208+8C>T rs56688069 0.00068
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) rs115379860 0.00057
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001171.6(ABCC6):c.4105G>A (p.Glu1369Lys) rs60285147 0.00021
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.1944-8G>A rs373223582 0.00016
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) rs978346965 0.00015
NM_001171.6(ABCC6):c.2995+6C>T rs373896559 0.00014
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) rs145553069 0.00012
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895 0.00011
NM_001171.6(ABCC6):c.4002G>C (p.Gly1334=) rs139128550 0.00010
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) rs368806440 0.00008
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) rs377008733 0.00008
NM_001171.6(ABCC6):c.4104C>T (p.Asp1368=) rs199668617 0.00008
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) rs372121585 0.00007
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) rs777566074 0.00006
NM_001171.6(ABCC6):c.1955C>T (p.Thr652Met) rs146936233 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) rs141728905 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.3113G>A (p.Arg1038Gln) rs371211631 0.00004
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser) rs148326870 0.00004
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279 0.00004
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys) rs72657701 0.00002
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1909G>A (p.Ala637Thr) rs759329140 0.00001
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262 0.00001
NM_001171.6(ABCC6):c.474G>A (p.Ala158=) rs376219152 0.00001
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
GRCh37/hg19 16p13.11(chr16:16248485-16259790)x1
GRCh37/hg19 16p13.11(chr16:16259360-16302623)x1
GRCh37/hg19 16p13.11(chr16:16308181-16308306)x1
NM_001171.6(ABCC6):c.117A>G (p.Val39=)
NM_001171.6(ABCC6):c.1311C>T (p.Ile437=)
NM_001171.6(ABCC6):c.1339-2A>G rs2047911840
NM_001171.6(ABCC6):c.1505A>G (p.Lys502Arg) rs72653771
NM_001171.6(ABCC6):c.1636-5C>G rs771552185
NM_001171.6(ABCC6):c.1873G>A (p.Gly625Arg)
NM_001171.6(ABCC6):c.2068G>A (p.Glu690Lys)
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.6(ABCC6):c.2151G>A (p.Leu717=)
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.6(ABCC6):c.2378A>G (p.Asn793Ser) rs2047375741
NM_001171.6(ABCC6):c.2819G>A (p.Arg940His)
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys) rs2152235595
NM_001171.6(ABCC6):c.2959C>A (p.Arg987Ser) rs761565275
NM_001171.6(ABCC6):c.2996-11T>G
NM_001171.6(ABCC6):c.3023C>T (p.Ala1008Val)
NM_001171.6(ABCC6):c.3634-1G>T rs2152218824
NM_001171.6(ABCC6):c.3732G>A (p.Lys1244=) rs773961518
NM_001171.6(ABCC6):c.3883-46A>G
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)
NM_001171.6(ABCC6):c.4164C>G (p.Pro1388=) rs373736094
NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=)
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.572C>A (p.Pro191His) rs1403467139

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