ClinVar Miner

List of variants in gene CPS1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.3337-79C>T rs4673540 0.99993
NM_001875.5(CPS1):c.4101+62A>G rs10932347 0.94113
NM_001875.5(CPS1):c.3667-160A>G rs2287598 0.76232
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001875.5(CPS1):c.236+265G>A rs7573258 0.62113
NM_001875.5(CPS1):c.841-182T>C rs2302910 0.61104
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_001875.5(CPS1):c.841-243A>G rs2302911 0.51166
NM_001875.5(CPS1):c.1549+268C>T rs12991680 0.48586
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.947+323A>G rs6760497 0.37596
NM_001875.5(CPS1):c.4102-476G>A rs11902281 0.34176
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001875.5(CPS1):c.1550-166G>A rs9288418 0.31300
NM_001875.5(CPS1):c.3405-92G>T rs34449727 0.29855
NM_001875.5(CPS1):c.2895+259C>T rs4614865 0.28028
NM_001875.5(CPS1):c.4003-207C>T rs2287596 0.25340
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_001875.5(CPS1):c.2830-138C>T rs2302908 0.24132
NM_001875.5(CPS1):c.2688-295G>A rs28469042 0.23840
NM_001875.5(CPS1):c.2895+135C>T rs13408918 0.23437
NM_001875.5(CPS1):c.2895+126G>A rs13409110 0.22733
NM_001875.5(CPS1):c.4102-324C>T rs4567871 0.22217
NM_001875.5(CPS1):c.1981+226T>C rs17774535 0.15974
NM_001875.5(CPS1):c.1981+116T>C rs2277909 0.12543
NM_001875.5(CPS1):c.4274+299T>G rs16844788 0.10797
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001875.5(CPS1):c.3142-150G>A rs3213785 0.08202
NM_001875.5(CPS1):c.3666+322G>C rs71350740 0.07989
NM_001875.5(CPS1):c.4405-86A>G rs17832175 0.07668
NM_001875.5(CPS1):c.3404+284C>T rs58927072 0.06843
NM_001875.5(CPS1):c.1708-97A>T rs4420657 0.06370
NM_001875.5(CPS1):c.4102-355T>C rs11886625 0.04479
NM_001875.5(CPS1):c.4002+80T>C rs7567836 0.04004
NM_001875.5(CPS1):c.471+72C>T rs78365831 0.03324
NM_001875.5(CPS1):c.2896-256A>G rs17775057 0.03259
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_001875.5(CPS1):c.2193-200G>A rs73984647 0.02999
NM_001875.5(CPS1):c.3927+41A>G rs41272671 0.02968
NM_001875.5(CPS1):c.2568+201A>G rs73073595 0.02685
NM_001875.5(CPS1):c.3142-119G>C rs73076044 0.02432
NM_001875.5(CPS1):c.1360-230G>A rs6743023 0.02287
NM_001875.5(CPS1):c.1708-98C>G rs112393887 0.02281
NM_001875.5(CPS1):c.1165-127C>A rs113132447 0.02271
NM_001122633.3(CPS1):c.-15-179G>A rs6732642 0.02261
NM_001875.5(CPS1):c.126+124G>A rs60586565 0.02257
NM_001875.5(CPS1):c.1360-297C>A rs6742717 0.02256
NM_001875.5(CPS1):c.237-91C>T rs116031642 0.02136
NM_001875.5(CPS1):c.2830-18A>G rs116664530 0.02055
NM_001875.5(CPS1):c.4405-132A>T rs77615405 0.02011
NM_001875.5(CPS1):c.1549+264A>G rs112724994 0.01825
NM_001875.5(CPS1):c.1164+99A>G rs113899268 0.01824
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001875.5(CPS1):c.3927+205C>T rs115644180 0.01774
NM_001875.5(CPS1):c.2391+18T>G rs59741271 0.01764
NM_001875.5(CPS1):c.127-93T>A rs115329306 0.01749
NM_001875.5(CPS1):c.127-98G>T rs114783002 0.01749
NM_001875.5(CPS1):c.1981+207G>A rs115202245 0.01745
NM_001875.5(CPS1):c.3558+206A>C rs148794069 0.01510
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.449G>A (p.Gly150Glu) rs114819130 0.00617
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.4404+4T>A rs199739254 0.00020
NM_001122633.3(CPS1):c.-15-321C>A rs73073545
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.1164+226G>T rs73073575
NM_001875.5(CPS1):c.1360-110G>A rs6743156
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.2392-133del rs3060429
NM_001875.5(CPS1):c.2392-133dup rs3060429
NM_001875.5(CPS1):c.2392-134_2392-133dup rs3060429
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3559-7del rs58225253
NM_001875.5(CPS1):c.3559-8_3559-7del rs58225253
NM_001875.5(CPS1):c.3666+76_3666+77dup rs61108700
NM_001875.5(CPS1):c.3666+77dup rs61108700
NM_001875.5(CPS1):c.381+212C>T rs13416489
NM_001875.5(CPS1):c.382-134dup rs55986465
NM_001875.5(CPS1):c.3928-125dup rs3214427
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.4003-109TG[15] rs3217217
NM_001875.5(CPS1):c.4003-109TG[16] rs3217217
NM_001875.5(CPS1):c.4003-109TG[17] rs3217217
NM_001875.5(CPS1):c.4102-263A>G rs4325692
NM_001875.5(CPS1):c.4102-342G>A rs77039478
NM_001875.5(CPS1):c.4102-419_4102-415del rs59810738
NM_001875.5(CPS1):c.4102-419_4102-416del rs1354312116
NM_001875.5(CPS1):c.4102-420del rs66758310
NM_001875.5(CPS1):c.622-182_622-181del rs149496892

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