ClinVar Miner

List of variants in gene CPS1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_001122633.3(CPS1):c.-16+12G>A rs17552879
NM_001122633.3(CPS1):c.-34G>A rs111491997
NM_001875.5(CPS1):c.-29T>G rs147937942
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.1032C>T (p.Thr344=) rs2229589
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862
NM_001875.5(CPS1):c.1359+7G>A rs16844647
NM_001875.5(CPS1):c.1981+116T>C
NM_001875.5(CPS1):c.2193-15G>T rs2287600
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.236+265G>A
NM_001875.5(CPS1):c.2391+18T>G rs59741271
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2830-18A>G rs116664530
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3667-160A>G
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001875.5(CPS1):c.4002+80T>C
NM_001875.5(CPS1):c.4102-324C>T
NM_001875.5(CPS1):c.4102-355T>C
NM_001875.5(CPS1):c.4102-476G>A
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129
NM_001875.5(CPS1):c.4274+299T>G
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.4404+4T>A rs199739254
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.841-182T>C

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