ClinVar Miner

List of variants in gene CPS1 reported as benign by Invitae

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Gene type:
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Total variants: 14
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NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1165-5T>C rs565003226
NM_001875.5(CPS1):c.1437G>A (p.Ala479=) rs80261173
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.2394C>A (p.Val798=) rs35678745
NM_001875.5(CPS1):c.2421G>A (p.Glu807=) rs140726293
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_001875.5(CPS1):c.3481-8C>T rs41272669
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.4275-10A>G rs41272673
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001875.5(CPS1):c.529-4A>T rs191182348

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