ClinVar Miner

List of variants in gene ABCC8 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 67
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HGVS dbSNP
NM_000352.5(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.5(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.5(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.5(ABCC8):c.1177-56G>A rs183921963
NM_000352.5(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.5(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.5(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.5(ABCC8):c.1630+10C>T rs188075767
NM_000352.5(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.5(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.5(ABCC8):c.170A>G (p.Lys57Arg)
NM_000352.5(ABCC8):c.1924-10C>T rs200823913
NM_000352.5(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.5(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.5(ABCC8):c.2117-3C>T rs1799854
NM_000352.5(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.5(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.5(ABCC8):c.2222+1G>T rs1554923999
NM_000352.5(ABCC8):c.2277C>T (p.Thr759=) rs1801261
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.2820+17A>G rs2106865
NM_000352.5(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.5(ABCC8):c.3000C>T (p.Cys1000=) rs192863214
NM_000352.5(ABCC8):c.3107G>A (p.Trp1036Ter)
NM_000352.5(ABCC8):c.3203C>T (p.Thr1068Met)
NM_000352.5(ABCC8):c.3455C>A (p.Ala1152Asp) rs1354859002
NM_000352.5(ABCC8):c.3455C>T (p.Ala1152Val) rs1354859002
NM_000352.5(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.5(ABCC8):c.3558-7G>A rs900191703
NM_000352.5(ABCC8):c.3612C>T (p.Ala1204=) rs149861153
NM_000352.5(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.5(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.403C>G (p.Leu135Val) rs368450282
NM_000352.5(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.5(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.5(ABCC8):c.4119+18A>G
NM_000352.5(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.5(ABCC8):c.4136G>A (p.Arg1379His)
NM_000352.5(ABCC8):c.4151_4152del (p.Lys1384fs) rs1554905145
NM_000352.5(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) rs387906408
NM_000352.5(ABCC8):c.4157C>T (p.Ser1386Phe) rs72559718
NM_000352.5(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.5(ABCC8):c.4198+18C>T rs373178978
NM_000352.5(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.5(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.5(ABCC8):c.4412-14C>T rs193922404
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.5(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.5(ABCC8):c.4545+13C>T rs78338172
NM_000352.5(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.5(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.5(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.5(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.579+14C>T rs2301703
NM_000352.5(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.5(ABCC8):c.647G>A (p.Arg216His)
NM_000352.5(ABCC8):c.742C>T (p.Arg248Ter)
NM_000352.5(ABCC8):c.822+20C>T rs181998151
NM_000352.5(ABCC8):c.928G>A (p.Asp310Asn)

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