ClinVar Miner

List of variants studied for Vici syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1254del (p.Ser419fs) rs2050902019 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) rs374321183 0.00001
NM_020964.3(EPG5):c.343dup (p.Asp115fs)
NM_020964.3(EPG5):c.3693G>A (p.Gln1231=)
NM_020964.3(EPG5):c.4475-1G>A rs2511712153

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