ClinVar Miner

List of variants reported as pathogenic for thiamine-responsive dysfunction syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_025243.4(SLC19A3):c.307dup (p.Val103fs)	rs2106329494
NM_025243.4(SLC19A3):c.696del (p.Lys232fs)

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