List of variants in gene OTC reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.350A>G (p.His117Arg)	rs66539573
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)	rs72556293
NM_000531.6(OTC):c.596A>G (p.Asn199Ser)	rs72558406
NM_000531.6(OTC):c.626C>T (p.Ala209Val)	rs72558417
NM_000531.6(OTC):c.944T>A (p.Val315Asp)	rs67414444
NM_000531.6(OTC):c.995G>A (p.Trp332Ter)	rs72558481

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