List of variants reported as likely pathogenic for biotinidase deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005
NM_001370658.1(BTD):c.91_92del (p.Asp31fs)

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