ClinVar Miner

List of variants in gene CPS1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001875.5(CPS1):c.1087-1G>T rs1064794258
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1926del (p.Asp642fs) rs1326644714
NM_001875.5(CPS1):c.2339G>A (p.Arg780His) rs758724746

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