ClinVar Miner

List of variants in gene CPS1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NC_000002.11:g.(211507390_211512586)_211513223del
NC_000002.11:g.211436160_211541748del105589
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
NM_001875.5(CPS1):c.1549+1G>A
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer) rs1699000892
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
NM_001875.5(CPS1):c.3337-1G>T rs1700452978
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs) rs1700454068
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter) rs761225695
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)

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