ClinVar Miner

List of variants reported as pathogenic for inborn disorder of lysosomal amino acid transport by Myriad Genetics, Inc.

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_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)	rs80338794	0.00049
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	rs113994205	0.00010

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