List of variants in gene CPS1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001875.5(CPS1):c.1926del (p.Asp642fs)	rs1326644714	0.00001
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)	rs758724746	0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	rs1392934477	0.00001
NM_001875.5(CPS1):c.1087-1G>T	rs1064794258
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)	rs961015305
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)	rs772497399
NM_001875.5(CPS1):c.1981+1G>C
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)	rs149518280
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)	rs1700804080

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