ClinVar Miner

List of variants studied for Vici syndrome by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663

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