ClinVar Miner

List of variants in gene OTC reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000531.3(OTC):c.-441G= rs5917572 0.69636
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.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.867+35T>G rs62622415 0.02489
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402 0.00341
NM_000531.6(OTC):c.663+50A>G rs957415 0.00294
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000531.6(OTC):c.299-18C>T rs5917586 0.00006
NM_000531.3(OTC):c.-437T>C
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.216+10A>G rs1473033144
NM_000531.6(OTC):c.299-34dup rs398122026
NM_000531.6(OTC):c.582C>A (p.Ile194=) rs200564773
NM_000531.6(OTC):c.596A>T (p.Asn199Ile)
NM_000531.6(OTC):c.62T>C (p.Met21Thr)
NM_000531.6(OTC):c.642C>A (p.His214Gln)
NM_000531.6(OTC):c.695_706del (p.Leu232_Gln235del)
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) rs72558443
NM_000531.6(OTC):c.78G>A (p.Arg26=)
NM_000531.6(OTC):c.793T>C (p.Trp265Arg) rs72558445

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