ClinVar Miner

List of variants reported as pathogenic for Hyperinsulinemic hypoglycemia, familial, 4 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NC_000004.12:g.107986495_107992009del
NM_005327.7(HADH):c.547-3_549del rs2126234459
NM_005327.7(HADH):c.636+471G>T rs786200932
NM_005327.7(HADH):c.773C>T (p.Pro258Leu) rs137853103

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