List of variants reported as likely pathogenic for Hyperinsulinism-hyperammonemia syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)	rs121909734
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)	rs797045597
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)	rs121909730
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)	rs121909737

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