List of variants in gene CPS1 reported by Mendelics

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.449G>A (p.Gly150Glu)	rs114819130	0.00617
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	rs141373204	0.00119
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	rs778958318	0.00007
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	rs1392934477	0.00001
NM_001875.5(CPS1):c.1207del (p.Ala403fs)	rs1574566578
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg)	rs778766382
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter)	rs1574567901
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly)	rs1015051007
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)	rs1574632659
NM_001875.5(CPS1):c.345_351del (p.Gly116fs)	rs2106079710
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro)	rs1574646079
NM_001875.5(CPS1):c.3666+77dup	rs61108700
NM_001875.5(CPS1):c.4275-2A>C	rs2105945930

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