List of variants reported as uncertain significance for biotinidase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	rs201023772	0.00022
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)	rs200327983	0.00008
NM_001370658.1(BTD):c.49G>A (p.Val17Met)	rs772369148	0.00004
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)	rs371116229	0.00003
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	rs558477960	0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	rs575787457	0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)	rs397514376	0.00001
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)	rs1553654038

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