ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic for Persistent hyperinsulinemic hypoglycemia of infancy

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Total variants: 37
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HGVS dbSNP
ABCC8, IVS8, A-G, -1013
NM_000352.4(ABCC8):c.-190C>G rs1395224084
NM_000352.4:c.(?_1818)_(1923_?)del
NM_001287174.2(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_001287174.2(ABCC8):c.1630+1G>T rs773306994
NM_001287174.2(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_001287174.2(ABCC8):c.1672-20A>G
NM_001287174.2(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_001287174.2(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569
NM_001287174.2(ABCC8):c.1879del (p.His627fs) rs764613146
NM_001287174.2(ABCC8):c.2117-1G>A rs797045207
NM_001287174.2(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.2(ABCC8):c.2860C>T (p.Gln954Ter) rs541269678
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs) rs886041392
NM_001287174.2(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_001287174.2(ABCC8):c.3512del (p.Leu1171fs) rs587783169
NM_001287174.2(ABCC8):c.3751C>T (p.Arg1251Ter) rs1057516281
NM_001287174.2(ABCC8):c.3871-1G>A rs766431403
NM_001287174.2(ABCC8):c.3992-9G>A rs151344623
NM_001287174.2(ABCC8):c.4058G>C (p.Arg1353Pro) rs28936370
NM_001287174.2(ABCC8):c.4122+1G>A rs797045211
NM_001287174.2(ABCC8):c.4157_4159CCT[1] (p.Ser1387del) rs387906408
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624
NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001287174.2(ABCC8):c.4310G>A (p.Arg1437Gln) rs387906407
NM_001287174.2(ABCC8):c.4379T>G (p.Leu1460Arg) rs971604271
NM_001287174.2(ABCC8):c.4414G>A (p.Asp1472Asn) rs72559716
NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg) rs72559715
NM_001287174.2(ABCC8):c.4453G>A (p.Gly1485Arg) rs1554904102
NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp) rs28936371
NM_001287174.2(ABCC8):c.4519G>A (p.Glu1507Lys) rs137852671
NM_001287174.2(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_001287174.2(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_001287174.2(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199

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