ClinVar Miner

List of variants studied for Hyperinsulinemic hypoglycemia, familial, 1 by 3billion

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe) rs72559718 0.00001
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter) rs1957198348 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
NM_000352.6(ABCC8):c.3575dup (p.Asp1192fs) rs2133430623
NM_000352.6(ABCC8):c.3753+1G>T

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