ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001875.5(CPS1):c.3405-29A>T rs3213784 0.37981
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952

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