ClinVar Miner

List of variants in gene SLC25A19 reported as not provided for thiamine-responsive dysfunction syndrome

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)	rs119473030	0.00024
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser)	rs387906944

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