List of variants reported as uncertain significance for thiamine-responsive dysfunction syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)	rs61734338	0.00083
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)	rs770374931	0.00014
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser)	rs886045530	0.00004
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)

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