ClinVar Miner

List of variants in gene CPS1 reported as benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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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.4275-10A>G rs41272673 0.03250
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.1359+7G>A rs16844647 0.00860
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.3033G>C (p.Val1011=) rs35374255 0.00230
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.3466A>T (p.Thr1156Ser) rs201246466 0.00013
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 0.00010
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
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.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.4102-263A>G rs4325692

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