ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6548+45A>C rs857717 0.99952
NM_003126.4(SPTA1):c.5189+35A>C rs2518492 0.99935
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.264+276T>C rs2779115 0.97178
NM_003126.4(SPTA1):c.25-281T>A rs443386 0.97176
NM_003126.4(SPTA1):c.25-178A>T rs366221 0.97175
NM_003126.4(SPTA1):c.25-301G>A rs431295 0.97175
NM_003126.4(SPTA1):c.24+276T>G rs368029 0.97174
NM_003126.4(SPTA1):c.264+112G>A rs385096 0.97174
NM_003126.4(SPTA1):c.264+239C>T rs439265 0.97169
NM_003126.4(SPTA1):c.264+240A>G rs438812 0.97168
NM_003126.4(SPTA1):c.24+3A>G rs2564858 0.97164
NC_000001.11:g.158686863A>T rs452233 0.97154
NM_003126.4(SPTA1):c.957+168T>C rs325997 0.95774
NM_003126.4(SPTA1):c.1599+294C>A rs966652 0.95772
NM_003126.4(SPTA1):c.813-7A>T rs325995 0.95672
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996 0.95473
NC_000001.11:g.158686851C>A rs12096997 0.93553
NM_003126.4(SPTA1):c.958-215G>A rs90078 0.92849
NM_003126.4(SPTA1):c.812+183G>T rs325994 0.91816
NM_003126.4(SPTA1):c.2220+254T>C rs857680 0.65093
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_003126.4(SPTA1):c.3714+76G>A rs857677 0.56438
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.264+46T>C rs857937 0.50357
NM_003126.4(SPTA1):c.813-45A>G rs703122 0.49749
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_003126.4(SPTA1):c.391-333G>A rs857933 0.49720
NM_003126.4(SPTA1):c.1489-198A>G rs857932 0.45984
NM_003126.4(SPTA1):c.1600-25T>C rs2298801 0.42214
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NC_000001.11:g.158686968A>G rs443000 0.35355
NM_003126.4(SPTA1):c.532-324G>A rs413190 0.34728
NM_003126.4(SPTA1):c.6530+96G>C rs7553252 0.34638
NM_003126.4(SPTA1):c.5565+190C>T rs11811522 0.34633
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.5566-229A>G rs3737516 0.34018
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.4738-305_4738-304insA rs112116104 0.28018
NM_003126.4(SPTA1):c.5189+214A>G rs11799335 0.28010
NM_003126.4(SPTA1):c.6531-300C>T rs73016289 0.27890
NM_003126.4(SPTA1):c.6531-317G>T rs66516624 0.27003
NM_003126.4(SPTA1):c.5910+112A>G rs56954229 0.26993
NM_003126.4(SPTA1):c.4981-147C>T rs10908687 0.26982
NM_003126.4(SPTA1):c.5910+94G>T rs11265038 0.26981
NM_003126.4(SPTA1):c.3570-37T>A rs11265044 0.26469
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.5833+105T>C rs12088990 0.25254
NM_003126.4(SPTA1):c.6789-314C>T rs72698798 0.24740
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.264+311T>A rs3835726 0.19347
NM_003126.4(SPTA1):c.1834-263G>T rs879236 0.18451
NM_003126.4(SPTA1):c.5664+106T>C rs12044097 0.14395
NM_003126.4(SPTA1):c.2899-241A>G rs2276401 0.10038
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.6549-22A>C rs41273515 0.07257
NM_003126.4(SPTA1):c.265-223T>C rs857935 0.06623
NM_003126.4(SPTA1):c.4737+89T>A rs7514536 0.05587
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.3997-42A>G rs16840429 0.05552
NM_003126.4(SPTA1):c.6548+57G>A rs79660690 0.05551
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.5432+210C>T rs79423995 0.05535
NM_003126.4(SPTA1):c.2465-58G>A rs12039268 0.04112
NC_000001.11:g.158686852C>A rs12096998 0.03721
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.390+17T>C rs116107257 0.03100
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.3896+19C>T rs76879596 0.01556
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.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.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_003126.4(SPTA1):c.1600-10A>G rs148156245 0.00410
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.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
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.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.373G>A (p.Ala125Thr) rs201771255 0.00105
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.2889C>T (p.Asn963=) rs371639635 0.00094
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.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00066
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00054
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 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.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) rs372075053 0.00032
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr) rs200193956 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.-126dup rs34783066
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.1687C>T (p.Arg563Trp)
NM_003126.4(SPTA1):c.1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-15_1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-16_1834-14del rs3039789
NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln)
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)
NM_003126.4(SPTA1):c.2296G>A (p.Ala766Thr)
NM_003126.4(SPTA1):c.24+132_24+137del rs66555443
NM_003126.4(SPTA1):c.25-25G>T rs2564859
NM_003126.4(SPTA1):c.25-321T>G rs857938
NM_003126.4(SPTA1):c.2588-15A>G
NM_003126.4(SPTA1):c.3828G>A (p.Gly1276=)
NM_003126.4(SPTA1):c.3936A>G (p.Val1312=)
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
NM_003126.4(SPTA1):c.4377C>T (p.Ser1459=)
NM_003126.4(SPTA1):c.4443-9G>A
NM_003126.4(SPTA1):c.4452T>C (p.Ala1484=)
NM_003126.4(SPTA1):c.468G>A (p.Arg156=)
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.4980+301G>A rs16840423
NM_003126.4(SPTA1):c.4980+72G>C rs17635857
NM_003126.4(SPTA1):c.5226G>A (p.Gly1742=)
NM_003126.4(SPTA1):c.5550A>G (p.Thr1850=)
NM_003126.4(SPTA1):c.5664+119C>G rs41523545
NM_003126.4(SPTA1):c.5931G>T (p.Leu1977=)
NM_003126.4(SPTA1):c.6120+11del rs750152009
NM_003126.4(SPTA1):c.6120+257A>G rs1619
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu) rs754206036
NM_003126.4(SPTA1):c.6258G>A (p.Glu2086=)
NM_003126.4(SPTA1):c.6418-312G>A rs10908686
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6789-19_6789-17dup rs5778083
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.679-166A>G rs325993
NM_003126.4(SPTA1):c.6940G>A (p.Glu2314Lys)
NM_003126.4(SPTA1):c.7089C>T (p.Ala2363=)
NM_003126.4(SPTA1):c.7134+250_7134+252dup rs34729637
NM_003126.4(SPTA1):c.791C>A (p.Ala264Glu)
NM_003126.4(SPTA1):c.876T>C (p.Tyr292=)

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