ClinVar Miner

List of variants in gene OTC reported as benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 7
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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.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402 0.00341
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005

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