List of variants in gene CPS1 reported by Eurofins NTD LLC (GA)

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)	rs2229589	0.59558
NM_001875.5(CPS1):c.529-4A>T	rs191182348	0.00289
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)	rs150966847	0.00131
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00119
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)	rs138392504	0.00102
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)	rs138424013	0.00049
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)	rs140999077	0.00009
NM_001875.5(CPS1):c.2644C>T (p.Arg882Cys)	rs148519116	0.00003
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)	rs386654705
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)	rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)	rs1047883
NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)	rs386654705
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)	rs200214298

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