ClinVar Miner

List of variants in gene CPS1 reported as not provided by GenomeConnect, ClinGen

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Gene type:
ClinVar version:
Total variants: 6
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NM_001875.4(CPS1):c.1030_1032delACCinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.3405-29A>T rs3213784
NM_001875.5(CPS1):c.3756+45C>T rs6435580
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504

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