ClinVar Miner

List of variants reported as likely benign for inborn disorder of lysosomal amino acid transport by Counsyl

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_012434.5(SLC17A5):c.1111+7G>A	rs146729568	0.01982
NM_004937.3(CTNS):c.461+8C>T	rs368822078	0.00003
NM_004937.3(CTNS):c.225+5_225+7dup	rs1555561050

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