ClinVar Miner

List of variants in gene CPS1 reported as benign by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_001122633.3(CPS1):c.-16+12G>A rs17552879
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.5(CPS1):c.2193-15G>T rs2287600
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.4217C>A (p.Thr1406Asn) rs1047891
NM_001875.5(CPS1):c.4275-10A>G rs41272673

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