ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of ornithine metabolism by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (14):

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	rs752669339	0.00001
NM_000274.4(OAT):c.875A>G (p.Lys292Arg)	rs1057518927

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