ClinVar Miner

List of variants reported as benign for ornithine translocase deficiency by Natera, Inc.

Included ClinVar conditions (1):

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu)	rs17849654	0.34875
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=)	rs9577152	0.11997
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=)	rs41396747	0.08535

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