ClinVar Miner

List of variants in gene CPS1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_001875.4(CPS1):c.1030_1032delACCinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser) rs386654705
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.5(CPS1):c.2644C>T (p.Arg882Cys) rs148519116
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr) rs140999077
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter) rs200214298
NM_001875.5(CPS1):c.529-4A>T rs191182348
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504

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