ClinVar Miner

List of variants reported as pathogenic for Hyperinsulinemic hypoglycemia, familial, 1 by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.598del (p.Thr200fs)	rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)	rs1564977373

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