ClinVar Miner

List of variants in gene CPS1 reported as benign for not specified

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Gene type:
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Total variants: 32
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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_001122633.3(CPS1):c.-16+12G>A rs17552879 0.43006
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.2391+18T>G rs59741271 0.01764
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_001122633.3(CPS1):c.-34G>A rs111491997 0.01369
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.-29T>G rs147937942 0.00830
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.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
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.1030_1032delinsTCT (p.Thr344Ser) rs386654705
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.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3559-7del rs58225253
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682

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