ClinVar Miner

List of variants reported as pathogenic for Vici syndrome by SIB Swiss Institute of Bioinformatics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939

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