List of variants in gene CPS1 reported as pathogenic by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)	rs121912592	0.00001
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)	rs121912596	0.00001
NG_008285.1:g.(115464_117421)_(119286_120194)del
NM_001875.5(CPS1):c.1010A>G (p.His337Arg)	rs28940283
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter)	rs121912593
NM_001875.5(CPS1):c.1529del (p.Gly510fs)	rs764384490
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)	rs121912595
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del)	rs727502824
NM_001875.5(CPS1):c.3558+1G>C	rs1559129372
NM_001875.5(CPS1):c.4101+2T>C	rs767575696
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)	rs753751183

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