ClinVar Miner

List of variants reported as uncertain significance for Vici syndrome by New York Genome Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met)	rs890699630	0.00003
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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