ClinVar Miner

List of variants in gene SPTA1 reported as pathogenic

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
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.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) rs121918644 0.00011
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_003126.4(SPTA1):c.6788+11C>T rs779537034 0.00002
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638 0.00001
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) rs121918635 0.00001
NM_003126.4(SPTA1):c.178C>T (p.Arg60Ter) rs373695294 0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) rs751026146 0.00001
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) rs755630903 0.00001
NM_003126.4(SPTA1):c.2806-13T>G rs757147440 0.00001
NM_003126.4(SPTA1):c.4180del (p.Cys1394fs) rs779174182 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 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
GRCh37/hg19 1q23.1(chr1:158655335-158667812)
NG_011474.1:g.11070_11071insSVAelement
NM_003126.2(SPTA1):c.5190_5310del rs754614154
NM_003126.4(SPTA1):c.1055G>A (p.Trp352Ter)
NM_003126.4(SPTA1):c.1120C>T (p.Arg374Ter)
NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) rs121918640
NM_003126.4(SPTA1):c.1350+1G>C
NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) rs121918637
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003126.4(SPTA1):c.1460_1463dup (p.Asp489fs) rs2101916656
NM_003126.4(SPTA1):c.1778del (p.Asp593fs) rs2101908951
NM_003126.4(SPTA1):c.1790G>A (p.Trp597Ter)
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) rs1553234309
NM_003126.4(SPTA1):c.1867C>T (p.Gln623Ter)
NM_003126.4(SPTA1):c.2053G>T (p.Glu685Ter)
NM_003126.4(SPTA1):c.2319C>A (p.Cys773Ter)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.24+1G>A rs772644757
NM_003126.4(SPTA1):c.2464G>T (p.Gly822Ter)
NM_003126.4(SPTA1):c.2465-1G>A rs863223305
NM_003126.4(SPTA1):c.2506A>T (p.Arg836Ter)
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter)
NM_003126.4(SPTA1):c.27del (p.Val10fs)
NM_003126.4(SPTA1):c.2806-3_2806-1del rs1652849551
NM_003126.4(SPTA1):c.2818A>T (p.Lys940Ter) rs1652848700
NM_003126.4(SPTA1):c.2920del (p.Glu974fs)
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter) rs539524312
NM_003126.4(SPTA1):c.2954del (p.Leu985fs)
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter) rs762088983
NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) rs1652590413
NM_003126.4(SPTA1):c.3188+5G>A rs1557961718
NM_003126.4(SPTA1):c.3257del (p.Leu1086fs) rs1652531375
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
NM_003126.4(SPTA1):c.3477+1G>C rs2101857591
NM_003126.4(SPTA1):c.3823C>T (p.Gln1275Ter) rs1652094925
NM_003126.4(SPTA1):c.4076_4077del (p.Gly1359fs)
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
NM_003126.4(SPTA1):c.4201C>T (p.Gln1401Ter) rs866240607
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
NM_003126.4(SPTA1):c.4408G>T (p.Glu1470Ter)
NM_003126.4(SPTA1):c.4443-1G>A
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter) rs1651716612
NM_003126.4(SPTA1):c.4603C>T (p.Gln1535Ter)
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4614C>G (p.Tyr1538Ter)
NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs) rs754501564
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)
NM_003126.4(SPTA1):c.481C>T (p.Gln161Ter) rs1654812809
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs)
NM_003126.4(SPTA1):c.5245C>T (p.Gln1749Ter)
NM_003126.4(SPTA1):c.5281G>T (p.Glu1761Ter)
NM_003126.4(SPTA1):c.531+1G>A
NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter) rs763899069
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter)
NM_003126.4(SPTA1):c.5950A>T (p.Arg1984Ter) rs886041244
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
NM_003126.4(SPTA1):c.6335T>G (p.Leu2112Ter)
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) rs2101942740
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) rs1649424538
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer) rs1396249069
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003126.4:c.47854delG

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