ClinVar Miner

List of variants studied for hyperinsulinemic hypoglycemia by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000208.4(INSR):c.1610+2T>C rs797045624 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) rs1554334433
NM_000352.6(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.2117-1G>A rs797045207
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) rs1554904102
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp) rs121909734
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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