ClinVar Miner

List of variants studied for Vici syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) rs374321183 0.00001
NM_020964.3(EPG5):c.4475-1G>A

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