ClinVar Miner

List of variants reported as pathogenic for biotinidase deficiency by MGZ Medical Genetics Center

Included ClinVar conditions (1):

Biotinidase deficiency

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Minimum conflict level: Report conflict between different conditions
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.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00007
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	rs190386869	0.00001

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