ClinVar Miner

List of variants reported as uncertain significance for Hyperinsulinism-hyperammonemia syndrome by New York Genome Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)	rs2133792192
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)	rs2133874774
NM_005271.5(GLUD1):c.446-5634T>C	rs1841280208

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