List of variants reported as likely pathogenic for biotinidase deficiency by Arcensus

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)	rs1249246307
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	rs750965140
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)

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