ClinVar Miner

List of variants studied for Hereditary spherocytosis type 3 by Illumina Laboratory Services, Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965 0.99361
NM_003126.4(SPTA1):c.126C>T (p.Val42=) rs435080 0.97180
NM_003126.4(SPTA1):c.24+3A>G rs2564858 0.97164
NM_003126.4(SPTA1):c.813-7A>T rs325995 0.95672
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996 0.95473
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_003126.4(SPTA1):c.*295C>T rs12601 0.52219
NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=) rs2251969 0.52153
NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094 0.52034
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=) rs3738791 0.34201
NM_003126.4(SPTA1):c.4195-12G>A rs6702040 0.34186
NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=) rs3753068 0.33588
NM_003126.4(SPTA1):c.1350+14A>T rs703116 0.31859
NM_003126.4(SPTA1):c.*167A>G rs3768535 0.25502
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_003126.4(SPTA1):c.2493T>G (p.Leu831=) rs2518493 0.24070
NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725 0.23548
NM_003126.4(SPTA1):c.3570-12C>T rs2246434 0.22246
NM_003126.4(SPTA1):c.*276T>C rs12128275 0.10237
NM_003126.4(SPTA1):c.2757A>G (p.Glu919=) rs16840450 0.09495
NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052 0.09487
NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val) rs7547313 0.09176
NM_003126.4(SPTA1):c.2102G>A (p.Arg701His) rs12090314 0.08273
NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys) rs78394850 0.05585
NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro) rs77877855 0.05556
NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=) rs75931146 0.05545
NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser) rs16830483 0.05541
NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn) rs16840544 0.03495
NM_003126.4(SPTA1):c.867T>C (p.Ser289=) rs12083637 0.03494
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.03142
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_003126.4(SPTA1):c.958-10C>A rs12085628 0.02300
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01721
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01270
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_003126.4(SPTA1):c.6530+15A>T rs78561085 0.00935
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=) rs34446973 0.00709
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) rs73020251 0.00621
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_003126.4(SPTA1):c.1600-10A>G rs148156245 0.00410
NM_003126.4(SPTA1):c.*68C>G rs186892978 0.00406
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 0.00169
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_003126.4(SPTA1):c.*387T>C rs549664412 0.00146
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) rs187932146 0.00116
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_003126.4(SPTA1):c.3715-11T>C rs147184530 0.00094
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_003126.4(SPTA1):c.3108C>T (p.His1036=) rs34886778 0.00089
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00054
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) rs186415745 0.00049
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) rs201514157 0.00041
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) rs201634881 0.00039
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) rs146520285 0.00036
NM_003126.4(SPTA1):c.3477+10G>C rs201932894 0.00033
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) rs372075053 0.00032
NM_003126.4(SPTA1):c.1833+4G>A rs370697955 0.00031
NM_003126.4(SPTA1):c.3477+15C>T rs369904982 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=) rs369020197 0.00027
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_003126.4(SPTA1):c.3188+8C>G rs199558386 0.00024
NM_003126.4(SPTA1):c.6549-4C>G rs199640503 0.00024
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly) rs374589766 0.00021
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) rs141823269 0.00019
NM_003126.4(SPTA1):c.345G>A (p.Arg115=) rs200343758 0.00018
NM_003126.4(SPTA1):c.957+7C>T rs369937649 0.00018
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr) rs146993090 0.00017
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00017
NM_003126.4(SPTA1):c.2654G>A (p.Arg885His) rs370989483 0.00016
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) rs564887323 0.00014
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00014
NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met) rs187916559 0.00012
NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe) rs772331386 0.00011
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) rs200529208 0.00010
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) rs36057043 0.00010
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro) rs200308788 0.00010
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) rs369125471 0.00009
NM_003126.4(SPTA1):c.5808G>A (p.Lys1936=) rs766829938 0.00009
NM_003126.4(SPTA1):c.6601-10G>A rs753769799 0.00009
NM_003126.4(SPTA1):c.*341T>G rs867313542 0.00008
NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp) rs567687301 0.00008
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) rs375016862 0.00008
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=) rs369988146 0.00007
NM_003126.4(SPTA1):c.*39G>A rs202171095 0.00006
NM_003126.4(SPTA1):c.1350+13A>G rs746352918 0.00006
NM_003126.4(SPTA1):c.1396G>C (p.Asp466His) rs201669174 0.00006
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys) rs767641820 0.00006
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val) rs375610306 0.00006
NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=) rs747751954 0.00006
NM_003126.4(SPTA1):c.444G>A (p.Leu148=) rs557685746 0.00006
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr) rs778626016 0.00006
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His) rs746762359 0.00006
NM_003126.4(SPTA1):c.5311-4T>A rs544472935 0.00006
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) rs199690643 0.00006
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu) rs747391167 0.00006
NM_003126.4(SPTA1):c.*294A>G rs886045378 0.00005
NM_003126.4(SPTA1):c.5004A>G (p.Thr1668=) rs768234604 0.00005
NM_003126.4(SPTA1):c.812+7A>T rs186595817 0.00005
NM_003126.4(SPTA1):c.*319C>T rs561434223 0.00004
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) rs748917509 0.00004
NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala) rs202138403 0.00004
NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln) rs762400241 0.00004
NM_003126.4(SPTA1):c.2484C>T (p.Ser828=) rs753103122 0.00004
NM_003126.4(SPTA1):c.2588-3T>C rs375142282 0.00004
NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn) rs201519091 0.00004
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_003126.4(SPTA1):c.4430G>A (p.Arg1477His) rs370469842 0.00004
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=) rs368542665 0.00004
NM_003126.4(SPTA1):c.854C>T (p.Pro285Leu) rs755259437 0.00004
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) rs147677656 0.00003
NM_003126.4(SPTA1):c.1409G>A (p.Arg470His) rs370498187 0.00003
NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser) rs200722082 0.00003
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys) rs565611676 0.00003
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys) rs762361277 0.00003
NM_003126.4(SPTA1):c.521T>C (p.Ile174Thr) rs1221196778 0.00003
NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His) rs779823270 0.00003
NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=) rs756418963 0.00003
NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys) rs774112593 0.00003
NM_003126.4(SPTA1):c.1308C>T (p.Leu436=) rs777881486 0.00002
NM_003126.4(SPTA1):c.1981C>T (p.Arg661Cys) rs747716571 0.00002
NM_003126.4(SPTA1):c.4287G>T (p.Leu1429=) rs886045384 0.00002
NM_003126.4(SPTA1):c.5566-10A>G rs140863916 0.00002
NM_003126.4(SPTA1):c.6843-8T>C rs766464890 0.00002
NM_003126.4(SPTA1):c.*379G>A rs976671141 0.00001
NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu) rs753495645 0.00001
NM_003126.4(SPTA1):c.1463T>A (p.Val488Glu) rs754575328 0.00001
NM_003126.4(SPTA1):c.1573T>C (p.Phe525Leu) rs886045391 0.00001
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met) rs777149969 0.00001
NM_003126.4(SPTA1):c.2323T>C (p.Phe775Leu) rs772872696 0.00001
NM_003126.4(SPTA1):c.2822A>G (p.His941Arg) rs751259397 0.00001
NM_003126.4(SPTA1):c.3189-10C>T rs769083223 0.00001
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) rs568501725 0.00001
NM_003126.4(SPTA1):c.480C>G (p.Phe160Leu) rs764615925 0.00001
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly) rs369714529 0.00001
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala) rs182430449 0.00001
NM_003126.4(SPTA1):c.5433-13C>A rs770095010 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.5566-11T>C rs886045382 0.00001
NM_003126.4(SPTA1):c.5643A>G (p.Gln1881=) rs375384407 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn) rs757836340 0.00001
NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser) rs182897201 0.00001
NM_003126.4(SPTA1):c.6372G>A (p.Val2124=) rs1376244991 0.00001
NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=) rs1206486118 0.00001
NM_003126.4(SPTA1):c.679-5A>C rs772845211 0.00001
NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys) rs553043635 0.00001
NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile) rs750904139 0.00001
NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser) rs376198878 0.00001
NM_003126.4(SPTA1):c.966G>A (p.Glu322=) rs750150735 0.00001
NM_003126.4(SPTA1):c.*133C>T rs868674912
NM_003126.4(SPTA1):c.*134T>G rs866529035
NM_003126.4(SPTA1):c.*296G>T rs886045377
NM_003126.4(SPTA1):c.*323T>C rs867404163
NM_003126.4(SPTA1):c.*420T>A rs1197068796
NM_003126.4(SPTA1):c.*509G>T rs1649201828
NM_003126.4(SPTA1):c.1554T>C (p.His518=) rs886045392
NM_003126.4(SPTA1):c.1698C>T (p.Ala566=) rs561401543
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.2015T>C (p.Leu672Ser) rs886045389
NM_003126.4(SPTA1):c.2039-15T>C rs886045388
NM_003126.4(SPTA1):c.204G>C (p.Trp68Cys) rs1655076780
NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser) rs201048261
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=) rs199815523
NM_003126.4(SPTA1):c.2187C>G (p.His729Gln) rs780083079
NM_003126.4(SPTA1):c.2244C>T (p.Asp748=) rs886045387
NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val) rs779283627
NM_003126.4(SPTA1):c.2461C>A (p.Leu821Ile) rs886045386
NM_003126.4(SPTA1):c.2464+13T>G rs1653313076
NM_003126.4(SPTA1):c.2479G>C (p.Ala827Pro) rs755782111
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe) rs111321033
NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser) rs576741169
NM_003126.4(SPTA1):c.2899-10T>A rs1652706512
NM_003126.4(SPTA1):c.3292A>C (p.Ile1098Leu) rs748421324
NM_003126.4(SPTA1):c.3660T>C (p.Ala1220=) rs886045385
NM_003126.4(SPTA1):c.410G>A (p.Arg137His) rs200716254
NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp) rs773758018
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4849C>A (p.Arg1617=) rs745646823
NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=) rs764566377
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.4969T>C (p.Leu1657=) rs772817383
NM_003126.4(SPTA1):c.5304C>T (p.Ala1768=) rs886045383
NM_003126.4(SPTA1):c.5581C>A (p.His1861Asn) rs886045381
NM_003126.4(SPTA1):c.5911-3C>T rs886045380
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) rs199993378
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu) rs754206036
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6989+8C>A rs1185409461
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.958-12T>C rs1654391231

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