ClinVar Miner

List of variants in gene SPTA1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 42
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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.4490G>A (p.Gly1497Glu) rs41273523 0.01332
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.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
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.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
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.3108C>T (p.His1036=) rs34886778 0.00089
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.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His) rs750860161 0.00009
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr) rs778626016 0.00006
NM_003126.4(SPTA1):c.5311-4T>A rs544472935 0.00006
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) rs199690643 0.00006
NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His) rs779823270 0.00003
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) rs200829664
NM_003126.4(SPTA1):c.1867C>T (p.Gln623Ter)
NM_003126.4(SPTA1):c.3204G>A (p.Leu1068=)
NM_003126.4(SPTA1):c.4311C>T (p.Asp1437=)
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4707C>T (p.Ser1569=)
NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter)
NM_003126.4(SPTA1):c.5639C>T (p.Ala1880Val)
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.5997A>G (p.Gln1999=)
NM_003126.4(SPTA1):c.6061C>T (p.Leu2021=)
NM_003126.4(SPTA1):c.60del (p.Ala21fs) rs1655094479
NM_003126.4(SPTA1):c.6421C>A (p.Arg2141=) rs41273519
NM_003126.4(SPTA1):c.6594A>G (p.Ala2198=) rs1649630994
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668

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