ClinVar Miner

List of variants reported as pathogenic for Hyperinsulinism-hyperammonemia syndrome by Invitae

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu) rs2133777379
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737

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