ClinVar Miner

List of variants in gene OTC reported as pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473

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