ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of lysosomal amino acid transport by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (15):

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_005476.7(GNE):c.1598G>A (p.Gly533Glu)	rs201808007	0.00002
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	rs769235753	0.00001

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