ClinVar Miner

List of variants in gene CYP4V2 reported as pathogenic by Invitae

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Total variants: 14
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HGVS dbSNP
NM_207352.4(CYP4V2):c.1168C>T (p.Arg390Cys)
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204
NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly) rs144109267
NM_207352.4(CYP4V2):c.176del (p.Leu59fs)
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283
NM_207352.4(CYP4V2):c.380T>A (p.Leu127Ter) rs1228072399
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189
NM_207352.4(CYP4V2):c.545del (p.Asn182fs)
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter)
NM_207352.4(CYP4V2):c.802-6_810del
NM_207352.4(CYP4V2):c.802-8T>G
NM_207352.4(CYP4V2):c.928G>T (p.Glu310Ter)
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197

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