List of variants in gene combination LOC129931894, SLC19A2 reported as uncertain significance 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_006996.3(SLC19A2):c.-2G>A	rs886045531	0.00006
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)	rs886045530	0.00006
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=)	rs928593954	0.00002
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=)	rs945252214	0.00002
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)	rs756487822	0.00001
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)	rs1490832268	0.00001
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)

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