ClinVar Miner

List of variants in gene CYP4V2 reported as likely pathogenic

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.254G>A (p.Arg85His) rs559133074 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_207352.4(CYP4V2):c.414-1G>A rs767779208 0.00015
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_207352.4(CYP4V2):c.987+1G>A rs1736302165 0.00001
NM_207352.4(CYP4V2):c.1090G>A (p.Gly364Arg)
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu) rs199476201
NM_207352.4(CYP4V2):c.1297T>C (p.Phe433Leu)
NM_207352.4(CYP4V2):c.1480C>T (p.Gln494Ter)
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
NM_207352.4(CYP4V2):c.217T>C (p.Phe73Leu)
NM_207352.4(CYP4V2):c.413+1G>A
NM_207352.4(CYP4V2):c.413+1G>C
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs) rs746484929
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
NM_207352.4(CYP4V2):c.605-2A>G rs2126585681
NM_207352.4(CYP4V2):c.792dup (p.Thr265fs) rs775749608
NM_207352.4(CYP4V2):c.873del (p.Ser292fs)

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