List of variants in gene CPS1 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)	rs2287599	0.64925
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)	rs2229589	0.59558
NM_001122633.3(CPS1):c.-16+12G>A	rs17552879	0.43006
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)	rs1047891	0.33052
NM_001875.5(CPS1):c.2193-15G>T	rs2287600	0.09707
NM_001875.5(CPS1):c.4275-10A>G	rs41272673	0.03250
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)	rs75395645	0.01788
NM_001875.5(CPS1):c.3481-8C>T	rs41272669	0.00424
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)	rs138779023	0.00295
NM_001875.5(CPS1):c.-4_-3insTTC	rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)	rs1047883

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