ClinVar Miner

List of variants in gene CPS1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_001875.5(CPS1):c.*438T>G rs7684 0.36145
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001875.5(CPS1):c.*346T>C rs715 0.27930
NM_001875.5(CPS1):c.*692C>G rs12476133 0.24256
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001875.5(CPS1):c.*380C>G rs10932349 0.07637
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_001875.5(CPS1):c.*829T>C rs79296773 0.02814
NM_001875.5(CPS1):c.*754T>G rs73078125 0.01899
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862 0.01287
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.*946C>T rs139770263 0.01212
NM_001875.5(CPS1):c.1359+7G>A rs16844647 0.00860
NM_001875.5(CPS1):c.-29T>G rs147937942 0.00830
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_001875.5(CPS1):c.*314T>A rs115293884 0.00624
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001875.5(CPS1):c.-128G>A rs182021022 0.00484
NM_001875.5(CPS1):c.3481-8C>T rs41272669 0.00424
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_001875.5(CPS1):c.*849A>G rs150782174 0.00302
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001875.5(CPS1):c.529-4A>T rs191182348 0.00289
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255 0.00230
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.3928-15T>C rs552764351 0.00173
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001875.5(CPS1):c.*274G>A rs528584074 0.00130
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_001875.5(CPS1):c.*187C>T rs543723956 0.00079
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_001875.5(CPS1):c.*427C>T rs111328810 0.00062
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650 0.00058
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073 0.00054
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 0.00049
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059 0.00040
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser) rs142693704 0.00035
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544 0.00029
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976 0.00026
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001875.5(CPS1):c.*976C>T rs763063376 0.00016
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466 0.00013
NM_001875.5(CPS1):c.*1087T>C rs760593059 0.00012
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 0.00010
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu) rs373841124 0.00010
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) rs140999077 0.00009
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=) rs201710257 0.00006
NM_001875.5(CPS1):c.*658A>G rs559191307 0.00005
NM_001875.5(CPS1):c.*848G>A rs142796725 0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_001875.5(CPS1):c.-4C>A rs768210605 0.00004
NM_001875.5(CPS1):c.4404+5A>T rs375785288 0.00004
NM_001875.5(CPS1):c.712-11C>T rs561995236 0.00004
NM_001875.5(CPS1):c.*235A>T rs6728169 0.00003
NM_001875.5(CPS1):c.*808G>T rs943762320 0.00003
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile) rs766236739 0.00003
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala) rs755035266 0.00002
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr) rs186877621 0.00002
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly) rs748968097 0.00002
NM_001875.5(CPS1):c.*1117A>G rs886055564 0.00001
NM_001875.5(CPS1):c.*424A>C rs1414802360 0.00001
NM_001875.5(CPS1):c.*739T>G rs886055560 0.00001
NM_001875.5(CPS1):c.*913G>T rs541817831 0.00001
NM_001875.5(CPS1):c.-76A>G rs372753413 0.00001
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012 0.00001
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe) rs749164722 0.00001
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val) rs746395584 0.00001
NM_001875.5(CPS1):c.2454A>G (p.Pro818=) rs765712117 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val) rs200237771 0.00001
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=) rs369030433 0.00001
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=) rs749825961 0.00001
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln) rs553145464 0.00001
NM_001875.5(CPS1):c.3558+7G>A rs764456030 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val) rs587780323 0.00001
NM_001875.5(CPS1):c.*1040C>T rs886055562
NM_001875.5(CPS1):c.*1068G>T rs886055563
NM_001875.5(CPS1):c.*311A>G rs886055558
NM_001875.5(CPS1):c.*387C>T rs886055559
NM_001875.5(CPS1):c.*5G>A rs886055556
NM_001875.5(CPS1):c.*747A>G rs1701612032
NM_001875.5(CPS1):c.*74T>C rs886055557
NM_001875.5(CPS1):c.*777A>G rs886055561
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1165-12A>G rs1574566498
NM_001875.5(CPS1):c.1982-1G>C rs1559102636
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val) rs1698935242
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp) rs1181945940
NM_001875.5(CPS1):c.2688-12A>G rs376699772
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val) rs886055552
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu) rs779342929
NM_001875.5(CPS1):c.2959+1del rs1559121934
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys) rs1700257191
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser) rs761921978
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3481-7G>C rs368909569
NM_001875.5(CPS1):c.3558+8C>T rs1700638481
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val) rs886055554
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr) rs886055555
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys) rs761974037

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