ClinVar Miner

List of variants reported as likely benign for thiamine-responsive dysfunction syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)	rs145804755	0.00150
NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)	rs142166552	0.00034

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