ClinVar Miner

List of variants in gene CYP4V2 reported as pathogenic for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283 0.00005
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189 0.00005
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_207352.4(CYP4V2):c.1168C>T (p.Arg390Cys) rs776616377 0.00002
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter) rs369063468 0.00002
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly) rs144109267 0.00001
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys) rs199476186 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_207352.4(CYP4V2):c.380T>A (p.Leu127Ter) rs1228072399 0.00001
NM_207352.4(CYP4V2):c.988-1G>A rs1013053543 0.00001
NC_000004.11:g.(?_187126334)_(187131795_?)del
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) rs199476198
NM_207352.4(CYP4V2):c.1062dup (p.Val355fs) rs1280925919
NM_207352.4(CYP4V2):c.1069del (p.His357fs)
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His) rs199476201
NM_207352.4(CYP4V2):c.1318C>T (p.Gln440Ter) rs1736631406
NM_207352.4(CYP4V2):c.1338del (p.Glu447fs) rs746220304
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
NM_207352.4(CYP4V2):c.219T>A (p.Phe73Leu)
NM_207352.4(CYP4V2):c.221_222del (p.Phe74fs) rs1561430786
NM_207352.4(CYP4V2):c.231_234del (p.Ile77fs)
NM_207352.4(CYP4V2):c.250dup (p.Tyr84fs) rs2126582074
NM_207352.4(CYP4V2):c.280del (p.Val94fs) rs2126582145
NM_207352.4(CYP4V2):c.327+1G>A rs199476182
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs) rs746484929
NM_207352.4(CYP4V2):c.512del (p.Asn171fs)
NM_207352.4(CYP4V2):c.545del (p.Asn182fs) rs2126585026
NM_207352.4(CYP4V2):c.550G>T (p.Glu184Ter) rs2126585037
NM_207352.4(CYP4V2):c.582_583del (p.Ala196fs)
NM_207352.4(CYP4V2):c.802-6_810del rs1300138505
NM_207352.4(CYP4V2):c.802-8T>G rs952799248
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.928G>T (p.Glu310Ter) rs894863416
NM_207352.4(CYP4V2):c.988-1G>C rs1013053543

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