ClinVar Miner

List of variants reported as pathogenic for biotinidase deficiency by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001

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