List of variants in gene OTC reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.119G>A (p.Arg40His)	rs72554308
NM_000531.6(OTC):c.216+1del	rs886041526
NM_000531.6(OTC):c.217-2dup	rs796052015
NM_000531.6(OTC):c.258dup (p.Glu87Ter)
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.386+1G>A	rs66737144
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)	rs68026851
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.589G>A (p.Gly197Arg)	rs72556301
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.67C>T (p.Arg23Ter)	rs72552300
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)	rs72558454
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)	rs796052013

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