ClinVar Miner

List of variants studied for Vici syndrome by New York Genome Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630 0.00002
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu) rs1196176370 0.00001
NM_020964.3(EPG5):c.7443-621A>G rs930302721

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