ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 91
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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.5665-24T>C rs41273521 0.01019
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
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.5911G>A (p.Asp1971Asn) rs116466258 0.00367
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.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.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
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.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
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.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_003126.4(SPTA1):c.3188+8C>G rs199558386 0.00024
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val) rs368253777 0.00024
NM_003126.4(SPTA1):c.1490C>A (p.Ala497Asp) rs199604294 0.00023
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_003126.4(SPTA1):c.812+20T>C rs140701005 0.00016
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) rs564887323 0.00014
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
NM_003126.4(SPTA1):c.4981-25C>T rs746819129 0.00009
NM_003126.4(SPTA1):c.122G>A (p.Arg41Gln) rs778903567 0.00006
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met) rs202105292 0.00006
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys) rs143816549 0.00005
NM_003126.4(SPTA1):c.1910T>C (p.Leu637Pro) rs763611798 0.00003
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.1753C>A (p.Gln585Lys) rs368469337 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.391G>A (p.Ala131Thr) rs199500418 0.00002
NM_003126.4(SPTA1):c.4421G>A (p.Arg1474Gln) rs768582381 0.00002
NM_003126.4(SPTA1):c.5029G>A (p.Gly1677Arg) rs771033064 0.00002
NM_003126.4(SPTA1):c.2914C>A (p.Pro972Thr) rs148064417 0.00001
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) rs568501725 0.00001
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=) rs749363866 0.00001
NM_003126.4(SPTA1):c.5432G>A (p.Arg1811Gln) rs748672916 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_003126.4(SPTA1):c.1248+4G>A rs2101924250
NM_003126.4(SPTA1):c.1342C>T (p.Arg448Trp)
NM_003126.4(SPTA1):c.1366AAC[1] (p.Asn457del) rs2101917221
NM_003126.4(SPTA1):c.1403G>C (p.Arg468Pro) rs372937123
NM_003126.4(SPTA1):c.1463T>C (p.Val488Ala) rs754575328
NM_003126.4(SPTA1):c.1489-12T>A
NM_003126.4(SPTA1):c.1675G>A (p.Gly559Arg)
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) rs200829664
NM_003126.4(SPTA1):c.1902G>T (p.Lys634Asn) rs374442926
NM_003126.4(SPTA1):c.202T>A (p.Trp68Arg) rs2101958016
NM_003126.4(SPTA1):c.2221-24G>T rs138471111
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe) rs111321033
NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu)
NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His)
NM_003126.4(SPTA1):c.3473G>A (p.Arg1158Gln)
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
NM_003126.4(SPTA1):c.3700C>T (p.Pro1234Ser)
NM_003126.4(SPTA1):c.3880T>C (p.Phe1294Leu)
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4182C>T (p.Cys1394=) rs2101837185
NM_003126.4(SPTA1):c.4339-188C>G rs979512757
NM_003126.4(SPTA1):c.4419_4420delinsTT (p.Arg1474Trp)
NM_003126.4(SPTA1):c.4605+4del rs756036039
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
NM_003126.4(SPTA1):c.5030G>A (p.Gly1677Glu) rs1651232252
NM_003126.4(SPTA1):c.5040C>A (p.Asn1680Lys)
NM_003126.4(SPTA1):c.5190-26C>G rs777919453
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) rs199993378
NM_003126.4(SPTA1):c.6047G>T (p.Arg2016Leu) rs199993378
NM_003126.4(SPTA1):c.6341T>A (p.Val2114Glu)
NM_003126.4(SPTA1):c.6418-23T>C rs2101758142
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile)
NM_003126.4(SPTA1):c.6689A>G (p.Asp2230Gly) rs369323191
NM_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln)
NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu) rs2101744936
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.880A>G (p.Lys294Glu)

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