ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
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.1982G>A (p.Arg661His) rs201845149 0.00134
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
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.3357G>C (p.Lys1119Asn) rs200230894 0.00098
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.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.6896G>T (p.Cys2299Phe) rs201514157 0.00041
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00017
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His) rs188580757 0.00014
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00014
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) rs121918644 0.00011
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) rs200529208 0.00010
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp) rs768966753 0.00006
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys) rs143816549 0.00005
NM_003126.4(SPTA1):c.1814C>A (p.Ala605Glu) rs929351807 0.00005
NM_003126.4(SPTA1):c.1904C>A (p.Thr635Asn) rs751943864 0.00004
NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu) rs761960429 0.00004
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_003126.4(SPTA1):c.5303C>T (p.Ala1768Val) rs762636926 0.00004
NM_003126.4(SPTA1):c.803G>A (p.Arg268Gln) rs374770233 0.00004
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) rs147677656 0.00003
NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys) rs781647129 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 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.2894G>T (p.Cys965Phe) rs765999382 0.00002
NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe) rs201324641 0.00002
NM_003126.4(SPTA1):c.1471T>C (p.Trp491Arg) rs1461673453 0.00001
NM_003126.4(SPTA1):c.2823T>A (p.His941Gln) rs1478000749 0.00001
NM_003126.4(SPTA1):c.2876G>A (p.Arg959Gln) rs754523316 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter) rs1571371125 0.00001
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg) rs766046816
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
NM_003126.4(SPTA1):c.131A>G (p.Glu44Gly)
NM_003126.4(SPTA1):c.1350+4A>C
NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr)
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1957T>C (p.Tyr653His)
NM_003126.4(SPTA1):c.2134T>G (p.Ser712Ala)
NM_003126.4(SPTA1):c.216A>G (p.Lys72=) rs1655075582
NM_003126.4(SPTA1):c.25G>C (p.Val9Leu) rs111321033
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg) rs1469105508
NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys)
NM_003126.4(SPTA1):c.390+4T>C
NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys) rs1651939630
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
NM_003126.4(SPTA1):c.438G>C (p.Leu146=) rs1280197961
NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln) rs2101946108
NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val)
NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=) rs1650012277
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe) rs1649486162
NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg) rs1571370675
NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys) rs1557917325
NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu) rs2101744936
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
NM_003126.4(SPTA1):c.813-6C>G rs1571523078
NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn) rs1654495744
NM_003126.4(SPTA1):c.957G>A (p.Lys319=) rs752690778

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