ClinVar Miner

List of variants in gene OTC reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NC_000023.11:g.38352036C>T
NC_000023.11:g.38352051G>A
NM_000531.5(OTC):c.-359G>A rs5917573
NM_000531.5(OTC):c.-365G>A rs5963030
NM_000531.5(OTC):c.-441A>G rs5917572
NM_000531.6(OTC):c.1005+1133A>G
NM_000531.6(OTC):c.1005+941T>C
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
NM_000531.6(OTC):c.541-305A>G
NM_000531.6(OTC):c.541-63G>A
NM_000531.6(OTC):c.664-220G>A
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.78-233G>C

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