ClinVar Miner

List of variants studied for Ornithine aminotransferase deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.860T>C (p.Ile287Thr) rs550949287 0.00002
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001

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