ClinVar Miner

List of variants reported as likely pathogenic for Hyperinsulinemic hypoglycemia, familial, 1 by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)	rs1957198348	0.00001
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)	rs760520781
NM_000352.6(ABCC8):c.3753+1G>T

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