ClinVar Miner

List of variants in gene CPS1 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2193-15G>T rs2287600
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer) rs778346264

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