ClinVar Miner

List of variants reported as pathogenic for You-Hoover-Fong syndrome by OMIM

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Total variants: 6
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NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775

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