ClinVar Miner

List of variants in gene CYP4V2 reported by Eurofins NTD LLC (GA)

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455 0.62273
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.36293
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456 0.07854
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_207352.4(CYP4V2):c.*4T>C rs76978024 0.00479
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_207352.4(CYP4V2):c.169T>C (p.Tyr57His) rs374174110 0.00034
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207352.4(CYP4V2):c.541A>G (p.Ile181Val) rs201006021 0.00010
NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly) rs144109267 0.00001
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=) rs374270799
NM_207352.4(CYP4V2):c.221_222del (p.Phe74fs) rs1561430786
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233

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