ClinVar Miner

List of variants studied for diazoxide-resistant focal hyperinsulinism by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_000352.5(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_000352.5(ABCC8):c.1332+4del rs587783164
NM_000352.5(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
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.2143G>A (p.Val715Met) rs1554924142
NM_000352.5(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
NM_000352.5(ABCC8):c.239T>G (p.Met80Arg) rs797045208
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.2921-9G>A rs757171524
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.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.5(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
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.4451G>T (p.Gly1484Val) rs193922405
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.5(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000525.3(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.3(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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