ClinVar Miner

List of variants in gene ABCC8 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP
NM_000352.4(ABCC8):c.-215G>C rs546148657
NM_000352.4(ABCC8):c.-215_-214del rs902564696
NM_000352.4(ABCC8):c.-385G>A rs1052653345
NM_000352.4(ABCC8):c.-544G>A rs184908312
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.5(ABCC8):c.-8G>T rs200091822
NM_000352.5(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.5(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.5(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.5(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_000352.5(ABCC8):c.1332+4del rs587783164
NM_000352.5(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.5(ABCC8):c.1486C>T (p.Leu496=) rs150956385
NM_000352.5(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
NM_000352.5(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.5(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.5(ABCC8):c.1687G>A (p.Val563Ile) rs1554926621
NM_000352.5(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.5(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.5(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569
NM_000352.5(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.5(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.5(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.5(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.5(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.5(ABCC8):c.2117-1G>A rs797045207
NM_000352.5(ABCC8):c.2117-3C>T rs1799854
NM_000352.5(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.5(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850
NM_000352.5(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.5(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.5(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.5(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.5(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.5(ABCC8):c.2556+22G>A rs73423036
NM_000352.5(ABCC8):c.2820+17A>G rs2106865
NM_000352.5(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.5(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.5(ABCC8):c.291-3C>T rs764107333
NM_000352.5(ABCC8):c.2921-9G>A rs757171524
NM_000352.5(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.5(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.5(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.5(ABCC8):c.3329+6C>T rs113873225
NM_000352.5(ABCC8):c.3345G>A (p.Thr1115=) rs186634115
NM_000352.5(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.5(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209
NM_000352.5(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.5(ABCC8):c.3552G>A (p.Ala1184=) rs144207158
NM_000352.5(ABCC8):c.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.5(ABCC8):c.3612C>T (p.Ala1204=) rs149861153
NM_000352.5(ABCC8):c.3755A>G (p.Glu1252Gly) rs797045210
NM_000352.5(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.5(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.5(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.4120-19C>T rs1800853
NM_000352.5(ABCC8):c.4120-27T>C rs739689
NM_000352.5(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.5(ABCC8):c.4174T>G (p.Phe1392Val) rs587783171
NM_000352.5(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.5(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.5(ABCC8):c.4314C>T (p.Asn1438=) rs752809991
NM_000352.5(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.5(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.5(ABCC8):c.4450G>A (p.Gly1484Arg) rs1554904102
NM_000352.5(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.5(ABCC8):c.4482C>T (p.Ala1494=) rs374853931
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.5(ABCC8):c.4524G>A (p.Thr1508=) rs553746345
NM_000352.5(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.5(ABCC8):c.4588C>T (p.Arg1530Cys) rs148808854
NM_000352.5(ABCC8):c.4609-40A>G rs1109591
NM_000352.5(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.5(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.579+14C>T rs2301703
NM_000352.5(ABCC8):c.806C>T (p.Ala269Val) rs372930264
NM_000352.5(ABCC8):c.823-8C>T rs201000679
NM_000352.5(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000352.5(ABCC8):c.947G>A (p.Gly316Glu) rs797045214
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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