List of variants in gene CPS1 reported as uncertain significance 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00119
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)	rs147294932	0.00060
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)	rs141481633	0.00043
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)	rs150314086	0.00021
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)	rs367595060	0.00006
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)	rs1392559810	0.00003
NM_001875.5(CPS1):c.937A>G (p.Met313Val)	rs587780323	0.00001
NM_001875.5(CPS1):c.1592T>A (p.Val531Glu)	rs2105840363
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)	rs1574632659
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)	rs761921978
NM_001875.5(CPS1):c.3325G>A (p.Val1109Ile)	rs1405959957
NM_001875.5(CPS1):c.3576C>G (p.Ile1192Met)
NM_001875.5(CPS1):c.382-10_382-7del	rs1354079241
NM_001875.5(CPS1):c.3952T>A (p.Leu1318Met)	rs769593170
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)

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