List of variants reported as likely pathogenic for Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)	rs772497399
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)	rs201716417
NM_001875.5(CPS1):c.3336+1G>A	rs1700437565
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)	rs2105908864

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