ClinVar Miner

List of variants in gene CYP4V2 reported as pathogenic for Bietti crystalline corneoretinal dystrophy

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Total variants: 36
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HGVS dbSNP
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) rs199476198
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro) rs199476199
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer) rs1579976512
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr) rs199476200
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His) rs199476201
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu) rs199476202
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter) rs1481160549
NM_207352.4(CYP4V2):c.1226-6_1235del rs199476184
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204
NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp) rs797045181
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter) rs146494374
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu) rs199476205
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys) rs199476186
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187
NM_207352.4(CYP4V2):c.327+1G>A rs199476182
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter) rs199476188
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His) rs199476191
NM_207352.4(CYP4V2):c.759dup (p.His254fs) rs199476192
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg) rs199476193
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter) rs199476194
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val) rs199476195
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile) rs199476196
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197

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