ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 22
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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.808C>G (p.Gln270Glu) rs72558451 0.00002
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.122A>T (p.Asp41Val) rs74518351
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) rs1555972495
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.299-8del rs764551624
NM_000531.6(OTC):c.382G>C (p.Ala128Pro) rs886043507
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer) rs1602029533
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.470T>C (p.Ile157Thr) rs1569279421
NM_000531.6(OTC):c.540+2T>C rs67367843
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.6(OTC):c.663+2T>C rs72558427
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.725C>A (p.Thr242Asn) rs72558435
NM_000531.6(OTC):c.868-3T>C rs398123459
NM_000531.6(OTC):c.870T>C (p.Thr290=) rs794727959

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