ClinVar Miner

List of variants reported as likely pathogenic for Vici syndrome by Revvity Omics, Revvity

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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.3477G>A (p.Trp1159Ter)	rs2145713137
NM_020964.3(EPG5):c.5304+1G>A

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