ClinVar Miner

List of variants in gene SPTA1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
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.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
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.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
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.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp) rs35237700 0.00325
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.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.5256G>A (p.Leu1752=) rs141683960 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.3062A>T (p.Asp1021Val) rs200511900 0.00117
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.2889C>T (p.Asn963=) rs371639635 0.00094
NM_003126.4(SPTA1):c.4339-126A>G rs376856911 0.00092
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.5310+17A>G rs371671685 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.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) rs186415745 0.00049
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
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.1688G>A (p.Arg563Gln) rs202243588 0.00032
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.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val) rs368253777 0.00024
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) rs141823269 0.00019
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 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.3940T>C (p.Ser1314Pro) rs200308788 0.00010
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) rs369125471 0.00009
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His) rs750860161 0.00009
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
NM_003126.4(SPTA1):c.4875+13G>A rs776588829 0.00009
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.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.858A>G (p.Val286=) rs370463832 0.00006
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) rs748917509 0.00004
NM_003126.4(SPTA1):c.3472C>T (p.Arg1158Trp) rs374770895 0.00004
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=) rs368542665 0.00004
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys) rs762361277 0.00003
NM_003126.4(SPTA1):c.4419G>A (p.Thr1473=) rs771135166 0.00003
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg) rs1469938477 0.00002
NM_003126.4(SPTA1):c.5566-10A>G rs140863916 0.00002
NM_003126.4(SPTA1):c.5834-13T>C rs370452867 0.00002
NM_003126.4(SPTA1):c.594G>A (p.Lys198=) rs756937438 0.00002
NM_003126.4(SPTA1):c.957+8G>A rs763322885 0.00002
NM_003126.4(SPTA1):c.3057T>C (p.Ala1019=) rs1571459542 0.00001
NM_003126.4(SPTA1):c.32A>G (p.Glu11Gly) rs769982359 0.00001
NM_003126.4(SPTA1):c.3570-11T>C rs551180246 0.00001
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala) rs182430449 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003126.4(SPTA1):c.1069G>T (p.Ala357Ser)
NM_003126.4(SPTA1):c.1113-5C>T
NM_003126.4(SPTA1):c.1113-9T>C
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.1248+16T>G
NM_003126.4(SPTA1):c.1446C>T (p.Tyr482=)
NM_003126.4(SPTA1):c.1479T>C (p.Ser493=)
NM_003126.4(SPTA1):c.1488+5C>T
NM_003126.4(SPTA1):c.1641T>C (p.His547=)
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys)
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) rs200829664
NM_003126.4(SPTA1):c.1902G>A (p.Lys634=)
NM_003126.4(SPTA1):c.2038+8G>A
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=) rs199815523
NM_003126.4(SPTA1):c.2161G>A (p.Glu721Lys)
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val)
NM_003126.4(SPTA1):c.2587+16A>G
NM_003126.4(SPTA1):c.264+12C>A
NM_003126.4(SPTA1):c.2812C>G (p.Leu938Val)
NM_003126.4(SPTA1):c.2898+12T>A
NM_003126.4(SPTA1):c.2899-14C>T
NM_003126.4(SPTA1):c.3037-10C>T
NM_003126.4(SPTA1):c.3204G>A (p.Leu1068=)
NM_003126.4(SPTA1):c.3375+16C>T
NM_003126.4(SPTA1):c.3584C>T (p.Thr1195Met)
NM_003126.4(SPTA1):c.3663T>G (p.Leu1221=)
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=)
NM_003126.4(SPTA1):c.3803A>G (p.Asn1268Ser)
NM_003126.4(SPTA1):c.3897-14del
NM_003126.4(SPTA1):c.390+9A>G
NM_003126.4(SPTA1):c.3997-5C>T
NM_003126.4(SPTA1):c.4025C>T (p.Ala1342Val)
NM_003126.4(SPTA1):c.4206G>T (p.Gly1402=)
NM_003126.4(SPTA1):c.4232T>G (p.Met1411Arg)
NM_003126.4(SPTA1):c.4309G>T (p.Asp1437Tyr)
NM_003126.4(SPTA1):c.4311C>T (p.Asp1437=)
NM_003126.4(SPTA1):c.4338+19G>C
NM_003126.4(SPTA1):c.463C>T (p.Leu155=)
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
NM_003126.4(SPTA1):c.4697T>C (p.Ile1566Thr)
NM_003126.4(SPTA1):c.4707C>T (p.Ser1569=)
NM_003126.4(SPTA1):c.4730C>G (p.Ala1577Gly)
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.4876-19C>T
NM_003126.4(SPTA1):c.5041G>A (p.Val1681Ile)
NM_003126.4(SPTA1):c.5189+18A>G
NM_003126.4(SPTA1):c.5190-20G>T
NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro)
NM_003126.4(SPTA1):c.5433-19G>C
NM_003126.4(SPTA1):c.5433-8del
NM_003126.4(SPTA1):c.5665-17C>A
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.5997A>G (p.Gln1999=)
NM_003126.4(SPTA1):c.6006G>T (p.Gln2002His)
NM_003126.4(SPTA1):c.6061C>T (p.Leu2021=)
NM_003126.4(SPTA1):c.6120+10A>C
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
NM_003126.4(SPTA1):c.6274C>T (p.Leu2092=)
NM_003126.4(SPTA1):c.6417+14C>T
NM_003126.4(SPTA1):c.6548+19C>A
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6549-14C>T
NM_003126.4(SPTA1):c.6594A>G (p.Ala2198=) rs1649630994
NM_003126.4(SPTA1):c.6632G>A (p.Arg2211His)
NM_003126.4(SPTA1):c.6789-20G>T
NM_003126.4(SPTA1):c.7008G>A (p.Leu2336=)
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.988C>T (p.Leu330=)

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