ClinVar Miner

List of variants in gene CPS1 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro) rs757205958
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser) rs201716417

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