ClinVar Miner

List of variants reported as pathogenic for thiamine-responsive dysfunction syndrome by Revvity Omics, Revvity

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.980-14A>G	rs200542114	0.00008
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)	rs121917884

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