ClinVar Miner

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

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.5(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.156A>T (p.Glu52Asp) rs72554318
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.621C>A (p.Ser207Arg) rs72558415
NM_000531.6(OTC):c.659C>T (p.Pro220Leu) rs72558426
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) rs72558443
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478

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