ClinVar Miner

List of variants reported as pathogenic for Hyperammonemia, type III by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.44001638C>T
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
NM_153006.3(NAGS):c.622C>T (p.Arg208Ter)	rs762205848

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