ClinVar Miner

List of variants in gene ARSA reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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HGVS dbSNP
NC_000022.10:g.(?_51062002_51064623del
NC_000022.10:g.(?_51063563)_(51066217_?)del
NC_000022.10:g.(?_51064344)_(51066227_?)del
NC_000022.11:g.(?_50625125)_(50627799_?)del
NC_000022.11:g.50627053del
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1006C>T (p.Leu336=) rs778950224
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1024C>T (p.Leu342=)
NM_000487.6(ARSA):c.1036del (p.Ala346fs) rs1555900463
NM_000487.6(ARSA):c.1041G>A (p.Gly347=)
NM_000487.6(ARSA):c.1046del (p.Pro349fs) rs1603444908
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.105T>C (p.Tyr35=)
NM_000487.6(ARSA):c.1077C>T (p.Asp359=)
NM_000487.6(ARSA):c.1087dup (p.Leu363fs)
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1107+10G>C
NM_000487.6(ARSA):c.1107+1G>T
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1107+8C>T
NM_000487.6(ARSA):c.1107+9G>A rs768146306
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1108-10C>G
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477
NM_000487.6(ARSA):c.1125C>T (p.Leu375=)
NM_000487.6(ARSA):c.1137G>A (p.Pro379=)
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.1155C>T (p.Val385=) rs149088203
NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro) rs747155690
NM_000487.6(ARSA):c.1162G>T (p.Val388Phe)
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.1197C>T (p.His399=)
NM_000487.6(ARSA):c.1210+1G>A rs80338820
NM_000487.6(ARSA):c.1210+20C>G rs762674
NM_000487.6(ARSA):c.1211-10C>T rs398123413
NM_000487.6(ARSA):c.1211-4C>T
NM_000487.6(ARSA):c.1211-8del
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) rs28940895
NM_000487.6(ARSA):c.1251C>T (p.His417=) rs140158705
NM_000487.6(ARSA):c.1260C>T (p.Ser420=) rs1603444868
NM_000487.6(ARSA):c.1269del (p.Ala424fs)
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1284G>A (p.Pro428=)
NM_000487.6(ARSA):c.1287G>A (p.Leu429=)
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) rs201693608
NM_000487.6(ARSA):c.12G>A (p.Gly4=)
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338
NM_000487.6(ARSA):c.1344C>T (p.Ala448=)
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg) rs117341984
NM_000487.6(ARSA):c.1353C>A (p.Thr451=)
NM_000487.6(ARSA):c.1359G>A (p.Glu453=)
NM_000487.6(ARSA):c.1363C>T (p.Leu455=)
NM_000487.6(ARSA):c.1374G>A (p.Leu458=)
NM_000487.6(ARSA):c.13G>A (p.Ala5Thr)
NM_000487.6(ARSA):c.1407C>T (p.Asp469=)
NM_000487.6(ARSA):c.1408_1419del (p.Ala470_Thr473del)
NM_000487.6(ARSA):c.1410A>T (p.Ala470=)
NM_000487.6(ARSA):c.1419C>G (p.Thr473=)
NM_000487.6(ARSA):c.1422C>T (p.Phe474=)
NM_000487.6(ARSA):c.1446C>A (p.Gly482=)
NM_000487.6(ARSA):c.1446C>G (p.Gly482=)
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)
NM_000487.6(ARSA):c.1455C>T (p.Pro485=) rs903106180
NM_000487.6(ARSA):c.1480G>A (p.Gly494Ser)
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) rs201085386
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr)
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter) rs1603445026
NM_000487.6(ARSA):c.160C>G (p.Leu54Val)
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414
NM_000487.6(ARSA):c.200del (p.Pro67fs)
NM_000487.6(ARSA):c.210G>A (p.Leu70=)
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.222T>C (p.Ser74=) rs760597265
NM_000487.6(ARSA):c.224+10G>C rs1603445022
NM_000487.6(ARSA):c.224+8G>A rs775536824
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.225-4G>A
NM_000487.6(ARSA):c.225-5C>T rs192013394
NM_000487.6(ARSA):c.225-9G>A
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403
NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe) rs1603445011
NM_000487.6(ARSA):c.240C>T (p.Thr80=)
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.247C>T (p.Leu83Phe) rs1603445008
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.273T>G (p.Pro91=) rs758790900
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904
NM_000487.6(ARSA):c.27C>T (p.Leu9=)
NM_000487.6(ARSA):c.291C>T (p.Ser97=)
NM_000487.6(ARSA):c.293_294insT (p.Arg99fs) rs1603445003
NM_000487.6(ARSA):c.294C>G (p.Ser98=)
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro)
NM_000487.6(ARSA):c.297G>C (p.Arg99=) rs1024546326
NM_000487.6(ARSA):c.300G>T (p.Gly100=)
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs)
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.306G>T (p.Leu102=)
NM_000487.6(ARSA):c.309C>T (p.Pro103=) rs760915508
NM_000487.6(ARSA):c.30C>T (p.Leu10=)
NM_000487.6(ARSA):c.318G>A (p.Glu106=)
NM_000487.6(ARSA):c.324C>T (p.Thr108=)
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972
NM_000487.6(ARSA):c.327G>A (p.Val109=) rs779471096
NM_000487.6(ARSA):c.329C>T (p.Ala110Val) rs1191014984
NM_000487.6(ARSA):c.336C>T (p.Val112=)
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)
NM_000487.6(ARSA):c.33G>T (p.Leu11=)
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr)
NM_000487.6(ARSA):c.345C>G (p.Ala115=) rs943706810
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.355C>G (p.Leu119Val) rs1569081347
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461
NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)
NM_000487.6(ARSA):c.393G>A (p.Gly131=)
NM_000487.6(ARSA):c.409C>T (p.Leu137=)
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr)
NM_000487.6(ARSA):c.413C>A (p.Pro138His)
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.414C>G (p.Pro138=) rs912206675
NM_000487.6(ARSA):c.414C>T (p.Pro138=)
NM_000487.6(ARSA):c.417C>A (p.Pro139=)
NM_000487.6(ARSA):c.417C>G (p.Pro139=)
NM_000487.6(ARSA):c.417C>T (p.Pro139=)
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.419A>T (p.His140Leu)
NM_000487.6(ARSA):c.429C>T (p.Phe143=)
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg) rs199476375
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.451dup (p.Tyr151fs)
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.465+3A>G
NM_000487.6(ARSA):c.465+9C>T
NM_000487.6(ARSA):c.466-7G>A
NM_000487.6(ARSA):c.466-7G>C rs6151414
NM_000487.6(ARSA):c.466-8C>G
NM_000487.6(ARSA):c.466-8C>T
NM_000487.6(ARSA):c.473G>C (p.Cys158Ser)
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.488G>A (p.Cys163Tyr)
NM_000487.6(ARSA):c.489C>T (p.Cys163=)
NM_000487.6(ARSA):c.492C>T (p.Phe164=)
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
NM_000487.6(ARSA):c.495G>T (p.Pro165=)
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser) rs578188411
NM_000487.6(ARSA):c.49C>T (p.Leu17=)
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000487.6(ARSA):c.513C>T (p.Asp171=)
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.537C>T (p.Val179=)
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.54C>T (p.Ala18=)
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131
NM_000487.6(ARSA):c.561G>A (p.Leu187=)
NM_000487.6(ARSA):c.564C>T (p.Ser188=) rs113209108
NM_000487.6(ARSA):c.573G>A (p.Ala191=)
NM_000487.6(ARSA):c.57T>C (p.Val19=)
NM_000487.6(ARSA):c.582C>T (p.Pro194=) rs372532763
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.6(ARSA):c.588G>A (p.Leu196=) rs758643108
NM_000487.6(ARSA):c.588G>T (p.Leu196=)
NM_000487.6(ARSA):c.591C>T (p.Pro197=) rs34457249
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)
NM_000487.6(ARSA):c.603C>A (p.Ala201=)
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377
NM_000487.6(ARSA):c.618C>T (p.Phe206=) rs370296376
NM_000487.6(ARSA):c.621C>T (p.Ala207=)
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.639C>T (p.Asp213=)
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.657C>T (p.Arg219=)
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249
NM_000487.6(ARSA):c.66G>A (p.Pro22=)
NM_000487.6(ARSA):c.66G>C (p.Pro22=)
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468
NM_000487.6(ARSA):c.678C>T (p.Ala226=)
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro) rs1555900849
NM_000487.6(ARSA):c.685-2A>G
NM_000487.6(ARSA):c.696C>T (p.Tyr232=) rs1603444965
NM_000487.6(ARSA):c.699T>C (p.Pro233=)
NM_000487.6(ARSA):c.6C>T (p.Ser2=) rs1373055038
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)
NM_000487.6(ARSA):c.705C>T (p.Phe235=)
NM_000487.6(ARSA):c.708T>C (p.Ser236=)
NM_000487.6(ARSA):c.717C>T (p.Ser239=)
NM_000487.6(ARSA):c.720T>C (p.Phe240=) rs1603444964
NM_000487.6(ARSA):c.723A>G (p.Ala241=)
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.6(ARSA):c.738C>T (p.Arg246=)
NM_000487.6(ARSA):c.741G>A (p.Gly247=)
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384
NM_000487.6(ARSA):c.750G>A (p.Gly250=)
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.781G>A (p.Gly261Arg)
NM_000487.6(ARSA):c.804G>A (p.Gly268=)
NM_000487.6(ARSA):c.814C>T (p.Leu272=)
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp)
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.828G>A (p.Thr276=) rs370585019
NM_000487.6(ARSA):c.829C>T (p.Leu277=)
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.6(ARSA):c.849C>T (p.Asp283=)
NM_000487.6(ARSA):c.854+1G>A
NM_000487.6(ARSA):c.855-1G>A
NM_000487.6(ARSA):c.855-4C>T
NM_000487.6(ARSA):c.858T>C (p.Pro286=)
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.864C>G (p.Thr288=)
NM_000487.6(ARSA):c.867G>A (p.Met289Ile) rs761919002
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.6(ARSA):c.891C>T (p.Ser297=)
NM_000487.6(ARSA):c.900G>A (p.Leu300=) rs540600192
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) rs794727704
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.924C>T (p.Tyr308=)
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360
NM_000487.6(ARSA):c.927G>A (p.Glu309=)
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr)
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315
NM_000487.6(ARSA):c.979+8C>T
NM_000487.6(ARSA):c.979+9G>A
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995
NM_000487.6(ARSA):c.980-10C>T rs1486892120
NM_000487.6(ARSA):c.980-7C>T
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.990C>T (p.His330=) rs768366772
NM_000487.6(ARSA):c.99C>T (p.Leu33=)

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