ClinVar Miner

List of variants studied for Hyperinsulinemic hypoglycemia, familial, 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 28
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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_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
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_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

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