ClinVar Miner

List of variants reported as uncertain significance for Vici syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00007
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu) rs776541656 0.00004
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly) rs766928627 0.00001
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.770A>G (p.Lys257Arg)

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