ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_001875.5(CPS1):c.1087-7C>T rs202117044
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976
NM_001875.5(CPS1):c.1632G>A (p.Thr544=) rs755530984
NM_001875.5(CPS1):c.195C>T (p.Ser65=) rs192759073
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786
NM_001875.5(CPS1):c.3481-8C>T rs41272669
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059
NM_001875.5(CPS1):c.528+9A>G rs369476447
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504

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