ClinVar Miner

List of variants in gene ABCC8 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_000352.4(ABCC8):c.-113G>A rs886048056
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.5(ABCC8):c.*118A>G rs142441893
NM_000352.5(ABCC8):c.*93T>A rs886048046
NM_000352.5(ABCC8):c.-19A>G rs193922394
NM_000352.5(ABCC8):c.-49G>C rs77498130
NM_000352.5(ABCC8):c.-8G>T rs200091822
NM_000352.5(ABCC8):c.105G>A (p.Pro35=) rs199925058
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.1332+4del rs587783164
NM_000352.5(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.5(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692
NM_000352.5(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.5(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.5(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054
NM_000352.5(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000352.5(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.5(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.5(ABCC8):c.1920G>A (p.Ala640=) rs146156937
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.1958G>A (p.Arg653Gln) rs146378237
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.5(ABCC8):c.2060C>T (p.Thr687Met) rs150316347
NM_000352.5(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.5(ABCC8):c.2117-10C>A rs886048053
NM_000352.5(ABCC8):c.2117-3C>T rs1799854
NM_000352.5(ABCC8):c.2256-3C>T rs756328102
NM_000352.5(ABCC8):c.2256-9C>T rs886048052
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.2500C>T (p.Arg834Cys) rs140068774
NM_000352.5(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.5(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.5(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936
NM_000352.5(ABCC8):c.2694+15G>A rs886048051
NM_000352.5(ABCC8):c.291-3C>T rs764107333
NM_000352.5(ABCC8):c.2937C>T (p.Ser979=) rs780868010
NM_000352.5(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.5(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568
NM_000352.5(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472
NM_000352.5(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362
NM_000352.5(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.5(ABCC8):c.3329+6C>T rs113873225
NM_000352.5(ABCC8):c.3399+13G>A rs182340196
NM_000352.5(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.5(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.5(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.5(ABCC8):c.3552G>A (p.Ala1184=) rs144207158
NM_000352.5(ABCC8):c.3558-6C>G rs886048050
NM_000352.5(ABCC8):c.3558-8C>T rs544550330
NM_000352.5(ABCC8):c.3612C>T (p.Ala1204=) rs149861153
NM_000352.5(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.5(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.5(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.3951C>G (p.Leu1317=) rs765708759
NM_000352.5(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.5(ABCC8):c.3989-10C>T rs373737642
NM_000352.5(ABCC8):c.3989-3C>G rs1324242791
NM_000352.5(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
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+15C>T rs58368439
NM_000352.5(ABCC8):c.413-15A>G rs758744263
NM_000352.5(ABCC8):c.4199-8C>T rs886048048
NM_000352.5(ABCC8):c.4239G>T (p.Pro1413=) rs373478721
NM_000352.5(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.5(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.5(ABCC8):c.4307+13A>C rs886048047
NM_000352.5(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.5(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.5(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.5(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.5(ABCC8):c.4647C>T (p.Ile1549=) rs367862706
NM_000352.5(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560
NM_000352.5(ABCC8):c.486C>T (p.Ile162=) rs149872185
NM_000352.5(ABCC8):c.541A>T (p.Met181Leu) rs368894930
NM_000352.5(ABCC8):c.579+14C>T rs2301703
NM_000352.5(ABCC8):c.853C>T (p.Arg285Trp) rs773087569

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