ClinVar Miner

List of variants in gene CYP4V2 reported as uncertain significance by Invitae

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Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.951A>C (p.Glu317Asp) rs144129557 0.00060
NM_207352.4(CYP4V2):c.169T>C (p.Tyr57His) rs374174110 0.00034
NM_207352.4(CYP4V2):c.987+3A>G rs149818768 0.00029
NM_207352.4(CYP4V2):c.902A>C (p.Asp301Ala) rs140344168 0.00028
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.1102C>T (p.Arg368Cys) rs150187626 0.00020
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr) rs376015936 0.00013
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu) rs144008429 0.00010
NM_207352.4(CYP4V2):c.541A>G (p.Ile181Val) rs201006021 0.00010
NM_207352.4(CYP4V2):c.1312G>A (p.Glu438Lys) rs558238506 0.00008
NM_207352.4(CYP4V2):c.1355G>A (p.Arg452His) rs149681054 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.263C>T (p.Pro88Leu) rs377042245 0.00006
NM_207352.4(CYP4V2):c.542T>A (p.Ile181Asn) rs138297987 0.00006
NM_207352.4(CYP4V2):c.1385C>T (p.Ala462Val) rs139270994 0.00005
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser) rs760001831 0.00004
NM_207352.4(CYP4V2):c.214G>A (p.Glu72Lys) rs377425030 0.00004
NM_207352.4(CYP4V2):c.359A>G (p.Lys120Arg) rs771216416 0.00004
NM_207352.4(CYP4V2):c.422A>G (p.Asn141Ser) rs752979612 0.00004
NM_207352.4(CYP4V2):c.431G>A (p.Arg144His) rs779534809 0.00004
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His) rs763083895 0.00004
NM_207352.4(CYP4V2):c.686T>C (p.Met229Thr) rs563685672 0.00004
NM_207352.4(CYP4V2):c.820A>C (p.Asn274His) rs754726100 0.00004
NM_207352.4(CYP4V2):c.931G>A (p.Gly311Arg) rs375077034 0.00004
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.272A>G (p.Lys91Arg) rs770301714 0.00003
NM_207352.4(CYP4V2):c.310A>G (p.Asn104Asp) rs752645954 0.00003
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr) rs376640607 0.00003
NM_207352.4(CYP4V2):c.1081G>T (p.Asp361Tyr) rs374223072 0.00002
NM_207352.4(CYP4V2):c.1354C>T (p.Arg452Cys) rs373329783 0.00002
NM_207352.4(CYP4V2):c.1357C>T (p.His453Tyr) rs563017506 0.00002
NM_207352.4(CYP4V2):c.1495C>T (p.Leu499Phe) rs761881255 0.00002
NM_207352.4(CYP4V2):c.296T>C (p.Met99Thr) rs751065501 0.00002
NM_207352.4(CYP4V2):c.836A>G (p.Asn279Ser) rs779071984 0.00002
NM_207352.4(CYP4V2):c.1049A>G (p.Glu350Gly) rs775369379 0.00001
NM_207352.4(CYP4V2):c.1067A>T (p.Asp356Val) rs146521931 0.00001
NM_207352.4(CYP4V2):c.1181C>T (p.Ser394Phe) rs762287609 0.00001
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu) rs199476202 0.00001
NM_207352.4(CYP4V2):c.1258G>A (p.Val420Ile) rs1044405297 0.00001
NM_207352.4(CYP4V2):c.1286A>G (p.Asp429Gly) rs1398982195 0.00001
NM_207352.4(CYP4V2):c.1309G>A (p.Glu437Lys) rs750224316 0.00001
NM_207352.4(CYP4V2):c.1324G>A (p.Glu442Lys) rs770028183 0.00001
NM_207352.4(CYP4V2):c.1327C>T (p.Arg443Trp) rs777774802 0.00001
NM_207352.4(CYP4V2):c.1361C>T (p.Pro454Leu) rs1304803543 0.00001
NM_207352.4(CYP4V2):c.1372G>A (p.Val458Met) rs202204817 0.00001
NM_207352.4(CYP4V2):c.1412A>C (p.Lys471Thr) rs764616926 0.00001
NM_207352.4(CYP4V2):c.1505A>C (p.Glu502Ala) rs1178760499 0.00001
NM_207352.4(CYP4V2):c.167C>T (p.Ala56Val) rs768059118 0.00001
NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro) rs778598903 0.00001
NM_207352.4(CYP4V2):c.208G>C (p.Gly70Arg) rs780104160 0.00001
NM_207352.4(CYP4V2):c.217T>G (p.Phe73Val) rs751069999 0.00001
NM_207352.4(CYP4V2):c.234T>G (p.Ile78Met) rs1475165142 0.00001
NM_207352.4(CYP4V2):c.274C>T (p.Leu92Phe) rs1279661949 0.00001
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val) rs143272248 0.00001
NM_207352.4(CYP4V2):c.328-3A>G rs1188599974 0.00001
NM_207352.4(CYP4V2):c.337A>G (p.Thr113Ala) rs1736136813 0.00001
NM_207352.4(CYP4V2):c.338C>G (p.Thr113Ser) rs368998803 0.00001
NM_207352.4(CYP4V2):c.343T>A (p.Ser115Thr) rs756675453 0.00001
NM_207352.4(CYP4V2):c.430C>T (p.Arg144Cys) rs757683326 0.00001
NM_207352.4(CYP4V2):c.521T>C (p.Val174Ala) rs760949006 0.00001
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys) rs745471184 0.00001
NM_207352.4(CYP4V2):c.674G>C (p.Arg225Thr) rs1256187484 0.00001
NM_207352.4(CYP4V2):c.695G>A (p.Arg232Gln) rs749306127 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.778A>T (p.Ile260Phe) rs1489291710 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.851G>A (p.Gly284Asp) rs1345068520 0.00001
NM_207352.4(CYP4V2):c.968T>C (p.Val323Ala) rs747139135 0.00001
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile) rs199476196 0.00001
NC_000004.11:g.(?_187112978)_(187131795_?)dup
NM_207352.4(CYP4V2):c.1004C>A (p.Ala335Glu) rs2126595445
NM_207352.4(CYP4V2):c.101T>C (p.Leu34Pro) rs1735996924
NM_207352.4(CYP4V2):c.1040C>G (p.Ser347Cys) rs2126595507
NM_207352.4(CYP4V2):c.1061A>C (p.Lys354Thr) rs1216129990
NM_207352.4(CYP4V2):c.1066G>T (p.Asp356Tyr) rs2126595542
NM_207352.4(CYP4V2):c.1070A>G (p.His357Arg)
NM_207352.4(CYP4V2):c.1091-14C>T
NM_207352.4(CYP4V2):c.1096T>C (p.Ser366Pro)
NM_207352.4(CYP4V2):c.1100A>G (p.Asp367Gly)
NM_207352.4(CYP4V2):c.1108G>A (p.Ala370Thr)
NM_207352.4(CYP4V2):c.1135C>T (p.Arg379Trp)
NM_207352.4(CYP4V2):c.1158G>T (p.Lys386Asn) rs2126600684
NM_207352.4(CYP4V2):c.1169G>C (p.Arg390Pro)
NM_207352.4(CYP4V2):c.1178C>T (p.Pro393Leu) rs1344497909
NM_207352.4(CYP4V2):c.1193T>G (p.Phe398Cys)
NM_207352.4(CYP4V2):c.1196C>T (p.Ala399Val)
NM_207352.4(CYP4V2):c.1201A>G (p.Ser401Gly)
NM_207352.4(CYP4V2):c.1216T>C (p.Cys406Arg)
NM_207352.4(CYP4V2):c.1217G>A (p.Cys406Tyr)
NM_207352.4(CYP4V2):c.1222G>T (p.Val408Leu)
NM_207352.4(CYP4V2):c.1225+3A>T
NM_207352.4(CYP4V2):c.1225+5G>A
NM_207352.4(CYP4V2):c.1229G>T (p.Gly410Val) rs566680277
NM_207352.4(CYP4V2):c.1235G>A (p.Arg412Lys)
NM_207352.4(CYP4V2):c.1249A>T (p.Thr417Ser) rs781400516
NM_207352.4(CYP4V2):c.1249_1250delinsTT (p.Thr417Phe) rs1736627536
NM_207352.4(CYP4V2):c.124C>G (p.Arg42Gly)
NM_207352.4(CYP4V2):c.1273G>A (p.Ala425Thr) rs1002978806
NM_207352.4(CYP4V2):c.1287T>G (p.Asp429Glu)
NM_207352.4(CYP4V2):c.1307C>G (p.Pro436Arg)
NM_207352.4(CYP4V2):c.1307C>T (p.Pro436Leu) rs1736630310
NM_207352.4(CYP4V2):c.1345G>A (p.Ala449Thr)
NM_207352.4(CYP4V2):c.1370A>G (p.Tyr457Cys)
NM_207352.4(CYP4V2):c.1375C>T (p.Pro459Ser) rs1554075115
NM_207352.4(CYP4V2):c.1376C>A (p.Pro459His) rs1270828621
NM_207352.4(CYP4V2):c.1376C>T (p.Pro459Leu) rs1270828621
NM_207352.4(CYP4V2):c.1378T>C (p.Phe460Leu) rs1736634848
NM_207352.4(CYP4V2):c.1387G>T (p.Gly463Cys) rs1490621697
NM_207352.4(CYP4V2):c.1402A>G (p.Ile468Val) rs934552351
NM_207352.4(CYP4V2):c.1406-1G>A
NM_207352.4(CYP4V2):c.1432A>G (p.Lys478Glu)
NM_207352.4(CYP4V2):c.143G>C (p.Arg48Pro) rs1735998479
NM_207352.4(CYP4V2):c.1441C>G (p.Leu481Val) rs368359294
NM_207352.4(CYP4V2):c.1444T>C (p.Ser482Pro) rs757530466
NM_207352.4(CYP4V2):c.1444T>G (p.Ser482Ala) rs757530466
NM_207352.4(CYP4V2):c.1459C>A (p.His487Asn)
NM_207352.4(CYP4V2):c.1470A>G (p.Ile490Met)
NM_207352.4(CYP4V2):c.1501C>G (p.Leu501Val) rs1736681246
NM_207352.4(CYP4V2):c.1507G>C (p.Gly503Arg)
NM_207352.4(CYP4V2):c.1529G>A (p.Ser510Asn) rs2126603720
NM_207352.4(CYP4V2):c.1557G>C (p.Arg519Ser) rs200291603
NM_207352.4(CYP4V2):c.1573C>A (p.Arg525Ser) rs140450256
NM_207352.4(CYP4V2):c.1573C>T (p.Arg525Cys) rs140450256
NM_207352.4(CYP4V2):c.205G>A (p.Asp69Asn)
NM_207352.4(CYP4V2):c.206A>T (p.Asp69Val) rs2126578807
NM_207352.4(CYP4V2):c.214G>C (p.Glu72Gln) rs377425030
NM_207352.4(CYP4V2):c.215A>T (p.Glu72Val) rs2126581990
NM_207352.4(CYP4V2):c.218T>G (p.Phe73Cys)
NM_207352.4(CYP4V2):c.229A>T (p.Ile77Phe) rs1736084760
NM_207352.4(CYP4V2):c.232_234del (p.Ile78del)
NM_207352.4(CYP4V2):c.242C>G (p.Thr81Arg) rs2126582057
NM_207352.4(CYP4V2):c.263_265del (p.Pro88del) rs753751184
NM_207352.4(CYP4V2):c.292C>T (p.Pro98Ser)
NM_207352.4(CYP4V2):c.323T>G (p.Val108Gly)
NM_207352.4(CYP4V2):c.328-12del
NM_207352.4(CYP4V2):c.332T>A (p.Ile111Asn) rs119103283
NM_207352.4(CYP4V2):c.350A>C (p.Gln117Pro) rs1257667947
NM_207352.4(CYP4V2):c.369G>A (p.Met123Ile)
NM_207352.4(CYP4V2):c.376T>A (p.Phe126Ile) rs1736138466
NM_207352.4(CYP4V2):c.376T>G (p.Phe126Val) rs1736138466
NM_207352.4(CYP4V2):c.398T>A (p.Leu133Gln) rs2126583901
NM_207352.4(CYP4V2):c.404T>C (p.Leu135Pro) rs764016255
NM_207352.4(CYP4V2):c.413+6C>T rs1157927264
NM_207352.4(CYP4V2):c.413G>A (p.Ser138Asn)
NM_207352.4(CYP4V2):c.423C>G (p.Asn141Lys)
NM_207352.4(CYP4V2):c.472A>G (p.Ile158Val)
NM_207352.4(CYP4V2):c.474T>G (p.Ile158Met) rs2126584888
NM_207352.4(CYP4V2):c.482A>T (p.Asp161Val)
NM_207352.4(CYP4V2):c.538C>T (p.His180Tyr) rs1736169852
NM_207352.4(CYP4V2):c.540C>G (p.His180Gln)
NM_207352.4(CYP4V2):c.554C>A (p.Ala185Glu) rs758719879
NM_207352.4(CYP4V2):c.571T>A (p.Tyr191Asn) rs79128796
NM_207352.4(CYP4V2):c.620A>G (p.Lys207Arg)
NM_207352.4(CYP4V2):c.626T>A (p.Ile209Asn) rs376640607
NM_207352.4(CYP4V2):c.626T>G (p.Ile209Ser) rs376640607
NM_207352.4(CYP4V2):c.641A>G (p.Asn214Ser)
NM_207352.4(CYP4V2):c.651C>T (p.Ser217=)
NM_207352.4(CYP4V2):c.661C>A (p.Arg221Ser)
NM_207352.4(CYP4V2):c.677T>C (p.Met226Thr) rs779872570
NM_207352.4(CYP4V2):c.684GAT[1] (p.Met229del) rs759932318
NM_207352.4(CYP4V2):c.688A>G (p.Ile230Val) rs1736231877
NM_207352.4(CYP4V2):c.699A>C (p.Arg233Ser)
NM_207352.4(CYP4V2):c.730T>C (p.Trp244Arg)
NM_207352.4(CYP4V2):c.739A>T (p.Met247Leu)
NM_207352.4(CYP4V2):c.73G>A (p.Ala25Thr)
NM_207352.4(CYP4V2):c.740T>C (p.Met247Thr)
NM_207352.4(CYP4V2):c.741G>A (p.Met247Ile)
NM_207352.4(CYP4V2):c.746AAG[1] (p.Glu250del) rs1365813584
NM_207352.4(CYP4V2):c.771C>G (p.Ser257Arg)
NM_207352.4(CYP4V2):c.772C>T (p.Leu258Phe) rs761190623
NM_207352.4(CYP4V2):c.788C>T (p.Thr263Ile) rs2126587312
NM_207352.4(CYP4V2):c.79G>A (p.Ala27Thr)
NM_207352.4(CYP4V2):c.800G>A (p.Ser267Asn) rs992940688
NM_207352.4(CYP4V2):c.801+5G>A rs2126587346
NM_207352.4(CYP4V2):c.831C>G (p.Asn277Lys) rs72646276
NM_207352.4(CYP4V2):c.837T>A (p.Asn279Lys)
NM_207352.4(CYP4V2):c.83G>C (p.Ser28Thr)
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn) rs913510827
NM_207352.4(CYP4V2):c.845_846inv (p.Cys282Tyr)
NM_207352.4(CYP4V2):c.862G>C (p.Gly288Arg) rs370303148
NM_207352.4(CYP4V2):c.863G>A (p.Gly288Asp)
NM_207352.4(CYP4V2):c.872C>T (p.Pro291Leu) rs1374016413
NM_207352.4(CYP4V2):c.878A>G (p.Lys293Arg) rs924936932
NM_207352.4(CYP4V2):c.899T>C (p.Leu300Pro)
NM_207352.4(CYP4V2):c.928G>A (p.Glu310Lys) rs894863416
NM_207352.4(CYP4V2):c.934A>T (p.Asn312Tyr) rs1170838878
NM_207352.4(CYP4V2):c.956T>C (p.Ile319Thr)
NM_207352.4(CYP4V2):c.962AAG[1] (p.Glu322del) rs765317114
NM_207352.4(CYP4V2):c.967G>A (p.Val323Ile) rs2126589752
NM_207352.4(CYP4V2):c.987+5_987+9del rs750215488
NM_207352.4(CYP4V2):c.988-11T>A
NM_207352.4(CYP4V2):c.988-3T>C

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