ClinVar Miner

List of variants in gene OTC reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000531.5(OTC):c.216+1delG rs886041526
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.217-2dup rs796052015
NM_000531.6(OTC):c.274C>T (p.Arg92Ter) rs67418243
NM_000531.6(OTC):c.298+1G>T rs68058881
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.540+1G>T rs72556288
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.562_563del (p.Gly188fs) rs796052016
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.615G>C (p.Met205Ile) rs796052012
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.634G>T (p.Gly212Ter) rs772049322
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) rs796052013

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