List of variants in gene OTC reported as likely 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	rs72558495	0.00001
NM_000531.6(OTC):c.804G>C (p.Met268Ile)	rs1357402422	0.00001
NM_000531.6(OTC):c.156A>T (p.Glu52Asp)	rs72554318
NM_000531.6(OTC):c.228A>C (p.Leu76Phe)	rs1555972495
NM_000531.6(OTC):c.241T>C (p.Ser81Pro)	rs2147324956
NM_000531.6(OTC):c.365A>G (p.Glu122Gly)	rs1131691517
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)	rs1555975685
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	rs72558406
NM_000531.6(OTC):c.617T>A (p.Met206Lys)	rs72558412
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)	rs72558415
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)	rs72558416
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)	rs72558418
NM_000531.6(OTC):c.673C>T (p.Pro225Ser)	rs72558428
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs)	rs1602033095
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)	rs66851495
NM_000531.6(OTC):c.785C>T (p.Thr262Ile)	rs67333670
NM_000531.6(OTC):c.868-2A>T	rs1064796335
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)	rs72558478

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