ClinVar Miner

List of variants in gene ABCC8 reported as likely benign for Hyperinsulinism, Dominant/Recessive

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Total variants: 38
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HGVS dbSNP
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.5(ABCC8):c.*118A>G rs142441893
NM_000352.5(ABCC8):c.-19A>G rs193922394
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.1332+4del rs587783164
NM_000352.5(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.5(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.5(ABCC8):c.1678G>A (p.Val560Met) rs4148619
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.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.2277C>T (p.Thr759=) rs1801261
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.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.354C>T (p.Val118=) rs137873871
NM_000352.5(ABCC8):c.3552G>A (p.Ala1184=) rs144207158
NM_000352.5(ABCC8):c.3558-8C>T rs544550330
NM_000352.5(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545
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.4090G>A (p.Val1364Ile) rs138642224
NM_000352.5(ABCC8):c.4119+15C>T rs58368439
NM_000352.5(ABCC8):c.423G>A (p.Val141=) rs116132921
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.4647C>T (p.Ile1549=) rs367862706
NM_000352.5(ABCC8):c.486C>T (p.Ile162=) rs149872185

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