ClinVar Miner

List of variants reported as pathogenic for Vici syndrome by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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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