ClinVar Miner

List of variants in gene CYP4V2 studied for perceptual disorders

Included ClinVar conditions (765):
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Gene type:
ClinVar version:
Total variants: 134
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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.775C>A (p.Gln259Lys) rs13146272 0.60911
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.1083C>T (p.Asp361=) rs10029149 0.07706
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764 0.04735
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03921
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02714
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269 0.01211
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298 0.01209
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.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_207352.4(CYP4V2):c.*160A>G rs187506967 0.00263
NM_207352.4(CYP4V2):c.*175A>G rs192122143 0.00193
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=) rs145611966 0.00169
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_207352.4(CYP4V2):c.282C>T (p.Val94=) rs142775374 0.00035
NM_207352.4(CYP4V2):c.169T>C (p.Tyr57His) rs374174110 0.00034
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282 0.00024
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His) rs138739819 0.00021
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.674+14T>C rs201205689 0.00020
NM_207352.4(CYP4V2):c.414-1G>A rs767779208 0.00015
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu) rs144008429 0.00014
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr) rs376015936 0.00013
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_207352.4(CYP4V2):c.1355G>A (p.Arg452His) rs149681054 0.00008
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala) rs143711287 0.00007
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys) rs200623218 0.00006
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.*172T>C rs1043961395 0.00004
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser) rs760001831 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His) rs763083895 0.00004
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val) rs762821992 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_207352.4(CYP4V2):c.264G>T (p.Pro88=) rs201610304 0.00003
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr) rs376640607 0.00003
NM_207352.4(CYP4V2):c.1168C>T (p.Arg390Cys) rs776616377 0.00002
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=) rs72646292 0.00002
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter) rs369063468 0.00002
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu) rs199476202 0.00001
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter) rs1481160549 0.00001
NM_207352.4(CYP4V2):c.1327C>T (p.Arg443Trp) rs777774802 0.00001
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_207352.4(CYP4V2):c.1372G>A (p.Val458Met) rs202204817 0.00001
NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro) rs778598903 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.302C>T (p.Ala101Val) rs143272248 0.00001
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys) rs745471184 0.00001
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val) rs531538384 0.00001
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg) rs199476193 0.00001
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile) rs761190623 0.00001
NM_207352.4(CYP4V2):c.780C>G (p.Ile260Met) rs753561422 0.00001
NM_207352.4(CYP4V2):c.801+1G>A rs761362530 0.00001
NM_207352.4(CYP4V2):c.815G>A (p.Arg272Gln) rs1228435590 0.00001
NM_207352.4(CYP4V2):c.82A>G (p.Ser28Gly) rs755702568 0.00001
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile) rs199476196 0.00001
NM_207352.4(CYP4V2):c.*198A>T rs150697121
NM_207352.4(CYP4V2):c.*204T>C rs577711483
NM_207352.4(CYP4V2):c.*210dup rs199938898
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.1062A>G (p.Lys354=) rs1736463662
NM_207352.4(CYP4V2):c.1062dup (p.Val355fs) rs1280925919
NM_207352.4(CYP4V2):c.106A>G (p.Arg36Gly)
NM_207352.4(CYP4V2):c.1090+1G>C
NM_207352.4(CYP4V2):c.1090G>A (p.Gly364Arg)
NM_207352.4(CYP4V2):c.1091-15A>G rs1300763823
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.1169G>T (p.Arg390Leu) rs199476201
NM_207352.4(CYP4V2):c.1216T>C (p.Cys406Arg)
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter) rs2126600867
NM_207352.4(CYP4V2):c.1222G>T (p.Val408Leu)
NM_207352.4(CYP4V2):c.1225+14A>G rs886059282
NM_207352.4(CYP4V2):c.1226-6_1235del rs199476184
NM_207352.4(CYP4V2):c.1229G>T (p.Gly410Val) rs566680277
NM_207352.4(CYP4V2):c.123G>A (p.Ala41=)
NM_207352.4(CYP4V2):c.1297T>C (p.Phe433Leu)
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1363del (p.Tyr455fs)
NM_207352.4(CYP4V2):c.1378T>C (p.Phe460Leu) rs1736634848
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.1526C>G (p.Pro509Arg)
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu) rs199476205
NM_207352.4(CYP4V2):c.152C>T (p.Pro51Leu)
NM_207352.4(CYP4V2):c.1576T>C (p.Ter526Gln)
NM_207352.4(CYP4V2):c.176del (p.Leu59fs) rs1735999769
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
NM_207352.4(CYP4V2):c.217T>A (p.Phe73Ile)
NM_207352.4(CYP4V2):c.242C>G (p.Thr81Arg) rs2126582057
NM_207352.4(CYP4V2):c.252C>A (p.Tyr84Ter)
NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer) rs2126582121
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser) rs886059281
NM_207352.4(CYP4V2):c.327+1G>A rs199476182
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter) rs199476188
NM_207352.4(CYP4V2):c.410C>A (p.Thr137Lys)
NM_207352.4(CYP4V2):c.414-1G>T
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.604+9C>T
NM_207352.4(CYP4V2):c.629del (p.Gly210fs)
NM_207352.4(CYP4V2):c.651C>T (p.Ser217=)
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His) rs199476191
NM_207352.4(CYP4V2):c.709C>T (p.Pro237Ser)
NM_207352.4(CYP4V2):c.732G>A (p.Trp244Ter)
NM_207352.4(CYP4V2):c.759dup (p.His254fs) rs199476192
NM_207352.4(CYP4V2):c.772C>T (p.Leu258Phe) rs761190623
NM_207352.4(CYP4V2):c.792dup (p.Thr265fs) rs775749608
NM_207352.4(CYP4V2):c.802-8_810del
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn) rs913510827
NM_207352.4(CYP4V2):c.845_846inv (p.Cys282Tyr)
NM_207352.4(CYP4V2):c.873del (p.Ser292fs)
NM_207352.4(CYP4V2):c.881dup (p.Asn294fs)
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter) rs199476194
NM_207352.4(CYP4V2):c.959G>T (p.Arg320Leu)
NM_207352.4(CYP4V2):c.960A>T (p.Arg320=)
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val) rs199476195
NM_207352.4(CYP4V2):c.987+7T>C rs1736302352

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