ClinVar Miner

List of variants reported as pathogenic for diazoxide-resistant focal hyperinsulinism

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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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_000352.5(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_000352.5(ABCC8):c.1630+1G>T rs773306994
NM_000352.5(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.5(ABCC8):c.1672-20A>G
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.2147G>T (p.Gly716Val) rs72559723
NM_000352.5(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.5(ABCC8):c.2292-1G>A rs1564905676
NM_000352.5(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
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.3748C>T (p.Arg1250Ter) rs1057516281
NM_000352.5(ABCC8):c.3868-1G>A rs766431403
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) rs387906408
NM_000352.5(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.5(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.5(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.5(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
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.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_000352.5(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_000525.3(KCNJ11):c.-134G>T rs387906398
NM_000525.3(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274
NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237
NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) rs104894248
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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