ClinVar Miner

List of variants in gene SPTA1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
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.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_003126.4(SPTA1):c.1086A>G (p.Arg362=) rs1374378636 0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) rs751026146 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter) rs749880846 0.00001
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.1112+1G>T
NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)
NM_003126.4(SPTA1):c.134G>C (p.Arg45Thr)
NM_003126.4(SPTA1):c.1350+1G>C
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003126.4(SPTA1):c.1514delinsTA (p.Gly505fs)
NM_003126.4(SPTA1):c.165dup (p.Gln56fs) rs2101958311
NM_003126.4(SPTA1):c.173del (p.Phe58fs)
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.1921C>T (p.Gln641Ter)
NM_003126.4(SPTA1):c.2038+1G>A rs199883479
NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg) rs2101904247
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter) rs2101900643
NM_003126.4(SPTA1):c.2335_2351delinsGCTCTCA (p.Lys779fs)
NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter) rs2101892539
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter)
NM_003126.4(SPTA1):c.262C>T (p.Gln88Ter) rs2101957676
NM_003126.4(SPTA1):c.2898+2T>C
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter) rs539524312
NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter) rs2101868872
NM_003126.4(SPTA1):c.3037-2A>G
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
NM_003126.4(SPTA1):c.3376-1G>A
NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)
NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
NM_003126.4(SPTA1):c.390+1G>A rs2101951549
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
NM_003126.4(SPTA1):c.4194+1del rs2101837157
NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)
NM_003126.4(SPTA1):c.4339-1G>T
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs) rs2101829513
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup) rs749754226
NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter) rs2101819646
NM_003126.4(SPTA1):c.4871C>G (p.Ser1624Ter)
NM_003126.4(SPTA1):c.4del (p.Glu2fs)
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
NM_003126.4(SPTA1):c.5249del (p.Asn1750fs)
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
NM_003126.4(SPTA1):c.5566-2A>T
NM_003126.4(SPTA1):c.5665-2A>G
NM_003126.4(SPTA1):c.5833+1G>A
NM_003126.4(SPTA1):c.5944C>T (p.Gln1982Ter)
NM_003126.4(SPTA1):c.60del (p.Ala21fs) rs1655094479
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs) rs2101760572
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
NM_003126.4(SPTA1):c.6414del (p.Ile2138fs) rs767854151
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) rs2101942740
NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)
NM_003126.4(SPTA1):c.6788+1G>A
NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter) rs1064795113
NM_003126.4(SPTA1):c.7134+2T>G
NM_003126.4(SPTA1):c.798dup (p.Gln267fs)
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
NM_003126.4(SPTA1):c.812+1G>A
NM_003126.4(SPTA1):c.836G>A (p.Trp279Ter) rs1131691810
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003126.4(SPTA1):c.955A>T (p.Lys319Ter)
NM_003126.4(SPTA1):c.957+1G>A rs373407146
NM_003126.4(SPTA1):c.958-1G>T

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