ClinVar Miner

List of variants in gene OTC reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_000531.6(OTC):c.718-14T>C rs55722856 0.05854
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.299-8del rs764551624

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