ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) rs201634881 0.00039
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val) rs368253777 0.00024
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly) rs374589766 0.00021
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His) rs188580757 0.00014
NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys) rs372067263 0.00011
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) rs200529208 0.00010
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) rs36057043 0.00010
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) rs375016862 0.00008
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val) rs375610306 0.00006
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His) rs746762359 0.00006
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu) rs747391167 0.00006
NM_003126.4(SPTA1):c.3830G>A (p.Arg1277His) rs201407861 0.00004
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.4421G>A (p.Arg1474Gln) rs768582381 0.00002
NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu) rs753495645 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003126.4(SPTA1):c.32A>G (p.Glu11Gly) rs769982359 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_003126.4(SPTA1):c.1013C>T (p.Ala338Val)
NM_003126.4(SPTA1):c.1025A>G (p.Gln342Arg)
NM_003126.4(SPTA1):c.1175C>A (p.Ala392Glu)
NM_003126.4(SPTA1):c.1187A>T (p.Asp396Val)
NM_003126.4(SPTA1):c.1201G>A (p.Asp401Asn)
NM_003126.4(SPTA1):c.1222C>G (p.Leu408Val)
NM_003126.4(SPTA1):c.1292A>G (p.Glu431Gly)
NM_003126.4(SPTA1):c.1305C>A (p.Asp435Glu)
NM_003126.4(SPTA1):c.1343G>C (p.Arg448Pro)
NM_003126.4(SPTA1):c.134G>A (p.Arg45Lys)
NM_003126.4(SPTA1):c.1364A>G (p.Asp455Gly)
NM_003126.4(SPTA1):c.1402C>T (p.Arg468Cys)
NM_003126.4(SPTA1):c.1403G>A (p.Arg468His)
NM_003126.4(SPTA1):c.1417G>C (p.Glu473Gln)
NM_003126.4(SPTA1):c.1451A>G (p.Asp484Gly)
NM_003126.4(SPTA1):c.1455T>A (p.Ser485Arg)
NM_003126.4(SPTA1):c.148G>A (p.Glu50Lys)
NM_003126.4(SPTA1):c.1496T>G (p.Leu499Arg)
NM_003126.4(SPTA1):c.1595T>C (p.Ile532Thr)
NM_003126.4(SPTA1):c.1675G>A (p.Gly559Arg)
NM_003126.4(SPTA1):c.1690C>T (p.Arg564Trp)
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys)
NM_003126.4(SPTA1):c.1718C>G (p.Thr573Ser)
NM_003126.4(SPTA1):c.1718C>T (p.Thr573Ile)
NM_003126.4(SPTA1):c.1747C>A (p.Leu583Ile)
NM_003126.4(SPTA1):c.1804A>C (p.Lys602Gln)
NM_003126.4(SPTA1):c.1903A>G (p.Thr635Ala)
NM_003126.4(SPTA1):c.1920A>G (p.Ile640Met)
NM_003126.4(SPTA1):c.1941G>A (p.Met647Ile)
NM_003126.4(SPTA1):c.1943T>C (p.Ile648Thr)
NM_003126.4(SPTA1):c.2000G>C (p.Ser667Thr)
NM_003126.4(SPTA1):c.2010G>T (p.Glu670Asp)
NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln)
NM_003126.4(SPTA1):c.2027C>T (p.Thr676Ile)
NM_003126.4(SPTA1):c.2053G>A (p.Glu685Lys)
NM_003126.4(SPTA1):c.2132C>T (p.Thr711Ile)
NM_003126.4(SPTA1):c.2174G>A (p.Arg725Gln)
NM_003126.4(SPTA1):c.2176C>G (p.Leu726Val)
NM_003126.4(SPTA1):c.2182A>G (p.Lys728Glu)
NM_003126.4(SPTA1):c.2188G>A (p.Gly730Ser)
NM_003126.4(SPTA1):c.2197G>A (p.Glu733Lys)
NM_003126.4(SPTA1):c.2255A>T (p.Tyr752Phe)
NM_003126.4(SPTA1):c.2290A>G (p.Ile764Val)
NM_003126.4(SPTA1):c.2312T>C (p.Leu771Ser)
NM_003126.4(SPTA1):c.2321G>T (p.Arg774Leu)
NM_003126.4(SPTA1):c.2338G>C (p.Glu780Gln)
NM_003126.4(SPTA1):c.2380C>T (p.His794Tyr)
NM_003126.4(SPTA1):c.2388G>T (p.Gln796His)
NM_003126.4(SPTA1):c.2413G>A (p.Glu805Lys)
NM_003126.4(SPTA1):c.2543G>A (p.Arg848His)
NM_003126.4(SPTA1):c.259A>G (p.Ile87Val)
NM_003126.4(SPTA1):c.2626A>G (p.Ser876Gly)
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser)
NM_003126.4(SPTA1):c.266G>A (p.Gly89Glu)
NM_003126.4(SPTA1):c.2755G>C (p.Glu919Gln)
NM_003126.4(SPTA1):c.2812C>G (p.Leu938Val)
NM_003126.4(SPTA1):c.2842C>T (p.Leu948Phe)
NM_003126.4(SPTA1):c.2858A>G (p.Asp953Gly)
NM_003126.4(SPTA1):c.2914C>G (p.Pro972Ala)
NM_003126.4(SPTA1):c.3187C>G (p.Gln1063Glu)
NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His)
NM_003126.4(SPTA1):c.319C>T (p.Leu107Phe)
NM_003126.4(SPTA1):c.3226C>T (p.Arg1076Cys)
NM_003126.4(SPTA1):c.3227G>A (p.Arg1076His)
NM_003126.4(SPTA1):c.3311A>G (p.Glu1104Gly)
NM_003126.4(SPTA1):c.3437T>C (p.Phe1146Ser)
NM_003126.4(SPTA1):c.343A>T (p.Arg115Trp)
NM_003126.4(SPTA1):c.3442G>A (p.Gly1148Arg)
NM_003126.4(SPTA1):c.3469A>G (p.Ile1157Val)
NM_003126.4(SPTA1):c.3488C>T (p.Ser1163Phe)
NM_003126.4(SPTA1):c.3526C>T (p.Arg1176Trp)
NM_003126.4(SPTA1):c.3536T>G (p.Leu1179Arg)
NM_003126.4(SPTA1):c.353G>A (p.Arg118Gln)
NM_003126.4(SPTA1):c.3589G>C (p.Glu1197Gln)
NM_003126.4(SPTA1):c.3608G>A (p.Cys1203Tyr)
NM_003126.4(SPTA1):c.3619A>G (p.Ser1207Gly)
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
NM_003126.4(SPTA1):c.3680G>T (p.Gly1227Val)
NM_003126.4(SPTA1):c.3725T>C (p.Leu1242Pro)
NM_003126.4(SPTA1):c.3790A>G (p.Lys1264Glu)
NM_003126.4(SPTA1):c.386C>T (p.Thr129Met)
NM_003126.4(SPTA1):c.3940T>A (p.Ser1314Thr)
NM_003126.4(SPTA1):c.3968G>A (p.Gly1323Asp)
NM_003126.4(SPTA1):c.3988A>G (p.Arg1330Gly)
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
NM_003126.4(SPTA1):c.409C>T (p.Arg137Cys)
NM_003126.4(SPTA1):c.4115C>G (p.Ala1372Gly)
NM_003126.4(SPTA1):c.4132G>C (p.Asp1378His)
NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
NM_003126.4(SPTA1):c.4198T>C (p.Phe1400Leu)
NM_003126.4(SPTA1):c.4217A>C (p.Gln1406Pro)
NM_003126.4(SPTA1):c.4226G>C (p.Ser1409Thr)
NM_003126.4(SPTA1):c.4240C>G (p.Arg1414Gly) rs201399968
NM_003126.4(SPTA1):c.427C>A (p.Leu143Met)
NM_003126.4(SPTA1):c.4349T>C (p.Ile1450Thr)
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys)
NM_003126.4(SPTA1):c.440C>A (p.Thr147Asn)
NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)
NM_003126.4(SPTA1):c.4480A>G (p.Thr1494Ala)
NM_003126.4(SPTA1):c.4515C>A (p.Phe1505Leu)
NM_003126.4(SPTA1):c.4658A>G (p.Glu1553Gly)
NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser)
NM_003126.4(SPTA1):c.4879G>A (p.Glu1627Lys)
NM_003126.4(SPTA1):c.4906G>T (p.Ala1636Ser)
NM_003126.4(SPTA1):c.4907C>G (p.Ala1636Gly)
NM_003126.4(SPTA1):c.4984G>T (p.Ala1662Ser)
NM_003126.4(SPTA1):c.4990A>G (p.Lys1664Glu)
NM_003126.4(SPTA1):c.5001T>G (p.Asn1667Lys)
NM_003126.4(SPTA1):c.5206G>A (p.Val1736Met)
NM_003126.4(SPTA1):c.5232T>A (p.Asp1744Glu)
NM_003126.4(SPTA1):c.5287G>C (p.Val1763Leu)
NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro)
NM_003126.4(SPTA1):c.5391T>G (p.Phe1797Leu)
NM_003126.4(SPTA1):c.541G>A (p.Ala181Thr)
NM_003126.4(SPTA1):c.542C>A (p.Ala181Glu)
NM_003126.4(SPTA1):c.5449G>A (p.Glu1817Lys)
NM_003126.4(SPTA1):c.544A>T (p.Thr182Ser)
NM_003126.4(SPTA1):c.5531G>A (p.Arg1844Gln)
NM_003126.4(SPTA1):c.5549C>T (p.Thr1850Ile)
NM_003126.4(SPTA1):c.5563C>A (p.Gln1855Lys)
NM_003126.4(SPTA1):c.5616G>C (p.Glu1872Asp)
NM_003126.4(SPTA1):c.5627A>T (p.Gln1876Leu)
NM_003126.4(SPTA1):c.5653A>T (p.Ile1885Phe)
NM_003126.4(SPTA1):c.5732C>T (p.Pro1911Leu)
NM_003126.4(SPTA1):c.5756C>T (p.Ala1919Val)
NM_003126.4(SPTA1):c.580G>A (p.Glu194Lys)
NM_003126.4(SPTA1):c.5852T>G (p.Leu1951Arg)
NM_003126.4(SPTA1):c.5882G>A (p.Gly1961Asp)
NM_003126.4(SPTA1):c.5917C>G (p.Leu1973Val)
NM_003126.4(SPTA1):c.5979C>G (p.Asp1993Glu)
NM_003126.4(SPTA1):c.6000C>A (p.His2000Gln)
NM_003126.4(SPTA1):c.6073G>A (p.Ala2025Thr)
NM_003126.4(SPTA1):c.6161C>T (p.Ala2054Val)
NM_003126.4(SPTA1):c.6167A>G (p.Asn2056Ser)
NM_003126.4(SPTA1):c.6211C>A (p.His2071Asn)
NM_003126.4(SPTA1):c.6251A>T (p.Asp2084Val)
NM_003126.4(SPTA1):c.6304T>G (p.Leu2102Val)
NM_003126.4(SPTA1):c.634G>A (p.Gly212Arg)
NM_003126.4(SPTA1):c.6379C>G (p.Leu2127Val)
NM_003126.4(SPTA1):c.6422G>A (p.Arg2141Gln)
NM_003126.4(SPTA1):c.6541C>A (p.Leu2181Met)
NM_003126.4(SPTA1):c.6609G>T (p.Gln2203His)
NM_003126.4(SPTA1):c.6656T>C (p.Leu2219Pro)
NM_003126.4(SPTA1):c.6680T>C (p.Leu2227Pro)
NM_003126.4(SPTA1):c.6701G>A (p.Ser2234Asn)
NM_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln)
NM_003126.4(SPTA1):c.676G>A (p.Glu226Lys)
NM_003126.4(SPTA1):c.6817C>A (p.Leu2273Ile)
NM_003126.4(SPTA1):c.6925A>G (p.Met2309Val)
NM_003126.4(SPTA1):c.6983C>T (p.Pro2328Leu)
NM_003126.4(SPTA1):c.6998A>G (p.Tyr2333Cys)
NM_003126.4(SPTA1):c.7069A>G (p.Ile2357Val)
NM_003126.4(SPTA1):c.7094C>T (p.Ala2365Val)
NM_003126.4(SPTA1):c.7121A>C (p.Glu2374Ala)
NM_003126.4(SPTA1):c.7127T>G (p.Met2376Arg)
NM_003126.4(SPTA1):c.764A>G (p.Gln255Arg)
NM_003126.4(SPTA1):c.776C>T (p.Ala259Val)

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