ClinVar Miner

List of variants studied for Vici syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00235
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00093
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00050
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074 0.00002
NM_020964.3(EPG5):c.25C>A (p.Arg9Ser) rs368321414 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu) rs370270531 0.00001
NM_020964.3(EPG5):c.1258A>G (p.Lys420Glu) rs2143723704
NM_020964.3(EPG5):c.2981C>T (p.Ser994Phe) rs2050179430
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204

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