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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	rs976185636	0.00009
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)	rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)	rs1575029719

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