List of variants in gene CPS1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	rs369061090	0.00005
NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro)	rs757205958
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser)	rs201716417

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