ClinVar Miner

List of variants in gene CPS1 reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 71
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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.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_001875.5(CPS1):c.2830-18A>G rs116664530 0.02055
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001875.5(CPS1):c.2391+18T>G rs59741271 0.01764
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.1359+7G>A rs16844647 0.00860
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001875.5(CPS1):c.712-16T>C rs187304632 0.00456
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.1214C>A (p.Thr405Asn) rs138254425 0.00392
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.3928-17T>G rs532757361 0.00233
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.1437G>A (p.Ala479=) rs80261173 0.00114
NM_001875.5(CPS1):c.381+17C>T rs374364413 0.00076
NM_001875.5(CPS1):c.1416T>C (p.Asn472=) rs148204462 0.00071
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser) rs148584272 0.00064
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073 0.00054
NM_001875.5(CPS1):c.529-11T>A rs186719380 0.00053
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.1116C>T (p.Phe372=) rs200465544 0.00029
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293 0.00025
NM_001875.5(CPS1):c.1200A>G (p.Lys400=) rs141545954 0.00024
NM_001875.5(CPS1):c.3927+16A>G rs188145947 0.00021
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_001875.5(CPS1):c.2352A>G (p.Thr784=) rs182565798 0.00014
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466 0.00013
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=) rs199676680 0.00011
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 0.00010
NM_001875.5(CPS1):c.732A>G (p.Leu244=) rs565797284 0.00008
NM_001875.5(CPS1):c.1165-5T>C rs565003226 0.00004
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_001875.5(CPS1):c.1708-5G>A rs571670790 0.00001
NM_001875.5(CPS1):c.1026C>A (p.Asp342Glu)
NM_001875.5(CPS1):c.1028A>G (p.Asn343Ser)
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.1031C>T (p.Thr344Ile)
NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser)
NM_001875.5(CPS1):c.1164+12del
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.2688-12A>T rs376699772
NM_001875.5(CPS1):c.2959+6del
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3141+26del
NM_001875.5(CPS1):c.3141+26dup
NM_001875.5(CPS1):c.3404+9_3404+10del rs557000347
NM_001875.5(CPS1):c.3405-13dup
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.4275-5del
NM_001875.5(CPS1):c.472-8dup rs761912505
NM_001875.5(CPS1):c.529-11dup
NM_001875.5(CPS1):c.621+8del rs1574551647
NM_001875.5(CPS1):c.948-9del

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