ClinVar Miner

List of variants reported as pathogenic for biotinidase deficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003

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