ClinVar Miner

List of variants studied for Vici syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn)	rs202038268	0.00030
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)	rs767638289	0.00001
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)	rs777644749
NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)	rs2511479250

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