ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance for Elliptocytosis 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) rs187932146 0.00116
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
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.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.1351-4A>G rs200868774 0.00037
NM_003126.4(SPTA1):c.3477+10G>C rs201932894 0.00033
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.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.957+7C>T rs369937649 0.00018
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00017
NM_003126.4(SPTA1):c.1396G>C (p.Asp466His) rs201669174 0.00016
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.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.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.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.2672G>A (p.Arg891Gln) rs36057043 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.5004A>G (p.Thr1668=) rs768234604 0.00005
NM_003126.4(SPTA1):c.812+7A>T rs186595817 0.00005
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.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.1308C>T (p.Leu436=) rs777881486 0.00003
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) rs147677656 0.00003
NM_003126.4(SPTA1):c.1350+13A>G rs746352918 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.3166C>T (p.Arg1056Cys) rs762361277 0.00003
NM_003126.4(SPTA1):c.4287G>T (p.Leu1429=) rs886045384 0.00003
NM_003126.4(SPTA1):c.480C>G (p.Phe160Leu) rs764615925 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.1981C>T (p.Arg661Cys) rs747716571 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.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.3189-13A>G rs776423390 0.00001
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) rs568501725 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.5566-11T>C rs886045382 0.00001
NM_003126.4(SPTA1):c.5643A>G (p.Gln1881=) rs375384407 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.966G>A (p.Glu322=) rs750150735 0.00001
NM_003126.4(SPTA1):c.1554T>C (p.His518=) rs886045392
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn) rs755070607
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.3331G>A (p.Asp1111Asn) rs760205675
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.4849C>A (p.Arg1617=) rs745646823
NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=) rs764566377
NM_003126.4(SPTA1):c.4969T>C (p.Leu1657=) rs772817383
NM_003126.4(SPTA1):c.5019G>C (p.Leu1673Phe)
NM_003126.4(SPTA1):c.5219A>G (p.Asp1740Gly) rs1651109720
NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg)
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.6172T>G (p.Trp2058Gly) rs2101760861
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu) rs754206036
NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu) rs1210432921
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6592G>A (p.Ala2198Thr)
NM_003126.4(SPTA1):c.6989+8C>A rs1185409461
NM_003126.4(SPTA1):c.958-12T>C rs1654391231
NM_003126.4:c.2899-50_4338+50del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.