List of variants in gene SLC25A19 reported as pathogenic for thiamine-responsive dysfunction syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.76G>A (p.Gly26Arg)	rs181826033	0.00002
NM_001126121.2(SLC25A19):c.194C>T (p.Ala65Val)	rs1555604541	0.00001
NM_001126121.2(SLC25A19):c.481G>A (p.Ala161Thr)	rs1208990609	0.00001
NM_001126121.2(SLC25A19):c.550G>C (p.Ala184Pro)	rs769187207	0.00001
NM_001126121.2(SLC25A19):c.576G>C (p.Gln192His)	rs1300370754	0.00001
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser)	rs387906944
NM_001126121.2(SLC25A19):c.454C>A (p.Pro152Thr)	rs1555603796
NM_001126121.2(SLC25A19):c.745T>A (p.Phe249Ile)	rs1598180323

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