ClinVar Miner

List of variants reported as uncertain significance for thiamine-responsive dysfunction syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (6):

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_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
NM_025243.4(SLC19A3):c.137T>C (p.Leu46Pro)
NM_025243.4(SLC19A3):c.191dup (p.Val65fs)

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