ClinVar Miner

Variants in gene CPS1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_001875.5(CPS1):c.1116C>T (p.Phe372=) rs200465544
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138
NM_001875.5(CPS1):c.948-6C>T rs112199960

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