ClinVar Miner

List of variants in gene OTC reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer) rs1569279343
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.540+2T>C rs67367843
NM_000531.6(OTC):c.663+2T>C rs72558427
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076

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