List of variants reported as uncertain significance for biotinidase deficiency by Genome-Nilou Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)	rs1295528438
NM_001370658.1(BTD):c.195C>T (p.Leu65=)	rs2125454784
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)	rs2125500615

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