ClinVar Miner

List of variants in gene CPS1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 45
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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.3405-29A>T rs3213784 0.37981
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
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.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.-29T>G rs147937942 0.00830
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.3481-8C>T rs41272669 0.00424
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.3558+38C>G rs188757166 0.00160
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173 0.00114
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.1416T>C (p.Asn472=) rs148204462 0.00071
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293 0.00025
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
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.1071C>T (p.Asn357=) rs146683599 0.00010
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_001875.5(CPS1):c.-4C>A rs768210605 0.00004
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser) rs750006303 0.00002
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1020C>T (p.Ala340=) rs1398138189
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
NM_001875.5(CPS1):c.2730T>C (p.Ile910=)
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser) rs761921978
NM_001875.5(CPS1):c.334C>T (p.Leu112=) rs149675371
NM_001875.5(CPS1):c.3543T>C (p.Val1181=)
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)

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