ClinVar Miner

Variants in gene OTC with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478

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