ClinVar Miner

List of variants in gene SPTA1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 121
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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
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.4195-12G>A rs6702040 0.34186
NM_003126.4(SPTA1):c.5566-229A>G rs3737516 0.34018
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.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.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.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
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.6851A>G (p.Asp2284Gly) rs374589766 0.00021
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 0.00016
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His) rs188580757 0.00014
NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys) rs372067263 0.00011
NM_003126.4(SPTA1):c.3670C>T (p.Arg1224Trp) rs567984472 0.00009
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003126.4(SPTA1):c.3830G>A (p.Arg1277His) rs201407861 0.00004
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) rs755630903 0.00001
NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter) rs1394141324 0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_003126.4(SPTA1):c.-126dup rs34783066
NM_003126.4(SPTA1):c.1490C>G (p.Ala497Gly) rs199604294
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
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.2101C>A (p.Arg701Ser) rs201048261
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.3123G>A (p.Met1041Ile) rs1308011828
NM_003126.4(SPTA1):c.3193C>T (p.Arg1065Cys)
NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.4484A>C (p.Lys1495Thr) rs2101830005
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4980+301G>A rs16840423
NM_003126.4(SPTA1):c.4980+72G>C rs17635857
NM_003126.4(SPTA1):c.5664+119C>G rs41523545
NM_003126.4(SPTA1):c.5950A>T (p.Arg1984Ter) rs886041244
NM_003126.4(SPTA1):c.6120+257A>G rs1619
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003126.4(SPTA1):c.6418-312G>A rs10908686
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6549-13G>A
NM_003126.4(SPTA1):c.6600+5G>A rs1462060431
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.679-166A>G rs325993
NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter) rs1064795113
NM_003126.4(SPTA1):c.7134+250_7134+252dup rs34729637
NM_003126.4(SPTA1):c.836G>A (p.Trp279Ter) rs1131691810
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.853C>G (p.Pro285Ala) rs150007668

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