ClinVar Miner

List of variants reported as pathogenic for biotinidase deficiency by DASA

Included ClinVar conditions (1):

Biotinidase deficiency

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_001370658.1(BTD):c.410G>A (p.Arg137His)	rs146015592	0.00016

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