ClinVar Miner

List of variants reported as likely pathogenic for Hyperinsulinemic hypoglycemia, familial, 4 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)	rs375717077	0.00003
NM_005327.7(HADH):c.261+1G>A	rs1398546361
NM_005327.7(HADH):c.587del (p.Ser196fs)	rs745727504

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