ClinVar Miner

List of variants reported as pathogenic for thiamine-responsive dysfunction syndrome by Fulgent Genetics, Fulgent Genetics

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_022445.4(TPK1):c.501+4A>T	rs375169579	0.00009
NM_025243.4(SLC19A3):c.597dup (p.His200fs)	rs773140674

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