ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
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.4105G>A (p.Glu1369Lys) rs60285147 0.00021
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.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.3802C>T (p.Arg1268Trp) rs368379895 0.00011
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.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.3691G>A (p.Val1231Met) rs141728905 0.00006
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.3723G>C (p.Trp1241Cys) rs72657701 0.00002
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.560C>T (p.Ala187Val) rs561266462 0.00001
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) rs199645691 0.00001
GRCh37/hg19 16p13.11(chr16:16308181-16308306)x1
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.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.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.6(ABCC6):c.572C>A (p.Pro191His) rs1403467139

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