ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_000352.5(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_000352.5(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.5(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569
NM_000352.5(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.5(ABCC8):c.2117-1G>A rs797045207
NM_000352.5(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.5(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.5(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.5(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
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.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
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.4376T>G (p.Leu1459Arg) rs971604271
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.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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