ClinVar Miner

List of variants studied for biotinidase deficiency by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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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

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