ClinVar Miner

List of variants in gene CPS1 reported by Genome Diagnostics Laboratory,University Medical Center Utrecht

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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NM_001875.4(CPS1):c.3928-19_3928-18delTT rs397703682
NM_001875.4(CPS1):c.3928-8delT rs397703682
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645
NM_001875.5(CPS1):c.2830-18A>G rs116664530
NM_001875.5(CPS1):c.4275-10A>G rs41272673

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