ClinVar Miner

List of variants in gene CPS1 reported by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser) rs1047579926 0.00003
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001875.5(CPS1):c.1263+5G>C rs1275489342 0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714 0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter) rs1251623714 0.00001
NM_001875.5(CPS1):c.2339G>A (p.Arg780His) rs758724746 0.00001
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596 0.00001
NM_001875.5(CPS1):c.2549G>A (p.Arg850His) rs767694281 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614 0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly) rs1276176761 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp) rs933813349 0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068 0.00001
NM_001875.5(CPS1):c.1087-1G>T rs1064794258
NM_001875.5(CPS1):c.1110del (p.Phe371fs) rs1698355880
NM_001875.5(CPS1):c.1123C>T (p.Gln375Ter)
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg) rs2106116333
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1344del (p.Ala448_Val449insTer)
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly) rs371350538
NM_001875.5(CPS1):c.1390_1397del (p.Pro464fs)
NM_001875.5(CPS1):c.1413dup (p.Asn472fs) rs1553512225
NM_001875.5(CPS1):c.1424del (p.Gly475fs) rs1375157321
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter) rs2106126181
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
NM_001875.5(CPS1):c.1547del (p.Cys516fs)
NM_001875.5(CPS1):c.1549+1G>T rs774484322
NM_001875.5(CPS1):c.1596del (p.Val533fs)
NM_001875.5(CPS1):c.1707+2T>G
NM_001875.5(CPS1):c.1796dup (p.Cys600fs)
NM_001875.5(CPS1):c.1812_1813del (p.Glu604fs)
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
NM_001875.5(CPS1):c.1962del (p.Asp654fs)
NM_001875.5(CPS1):c.214del (p.Val72fs)
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
NM_001875.5(CPS1):c.2170_2173delinsCCA (p.Ala724fs)
NM_001875.5(CPS1):c.2392-1G>A
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2420_2423dup (p.Ser808fs)
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2568+1G>A
NM_001875.5(CPS1):c.2688-1G>A
NM_001875.5(CPS1):c.274C>T (p.Gln92Ter)
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer) rs1179151808
NM_001875.5(CPS1):c.2830-2A>G
NM_001875.5(CPS1):c.2876A>G (p.Tyr959Cys)
NM_001875.5(CPS1):c.2885_2889del (p.Tyr962fs)
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3100G>T (p.Glu1034Ter)
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
NM_001875.5(CPS1):c.3141+2T>C rs2105901763
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
NM_001875.5(CPS1):c.3317G>A (p.Trp1106Ter)
NM_001875.5(CPS1):c.3336+2T>A
NM_001875.5(CPS1):c.3337-1G>T rs1700452978
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter) rs2105908864
NM_001875.5(CPS1):c.3404+1G>A
NM_001875.5(CPS1):c.340G>T (p.Glu114Ter)
NM_001875.5(CPS1):c.3481-2A>G
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
NM_001875.5(CPS1):c.3558+1G>C rs1559129372
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter) rs774692248
NM_001875.5(CPS1):c.3666+1del
NM_001875.5(CPS1):c.3682del (p.Arg1228fs) rs2105920599
NM_001875.5(CPS1):c.3775A>T (p.Arg1259Ter)
NM_001875.5(CPS1):c.3903del (p.Pro1302fs) rs1264586092
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
NM_001875.5(CPS1):c.4002+1G>T
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del) rs766705843
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4132G>A (p.Ala1378Thr)
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter) rs1172971002
NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter) rs772576138
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4326del (p.Asn1442fs)
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter) rs200214298
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.711+1G>A
NM_001875.5(CPS1):c.711+1G>T
NM_001875.5(CPS1):c.712-1G>T
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
NM_001875.5(CPS1):c.79C>T (p.Gln27Ter)
NM_001875.5(CPS1):c.79del (p.Gln27fs)
NM_001875.5(CPS1):c.840+1G>T rs1206168005
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183
NM_001875.5(CPS1):c.86G>A (p.Trp29Ter)

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