ClinVar Miner

List of variants in gene CPS1 reported by OMIM

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Total variants: 14
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HGVS dbSNP
CPS1, 1-BP DEL, 1528G
CPS1, 4.2-KB DEL
CPS1, 9-BP DEL
NM_001875.4(CPS1):c.4196A>C (p.Asn1399Thr) rs121912594
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.1571G>T (p.Gly524Val) rs397514748
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp) rs121912595
NM_001875.5(CPS1):c.3031_3033GTG[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.4196A>C (p.Asn1399Thr) rs121912594

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