ClinVar Miner

List of variants studied for biotinidase deficiency by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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.908A>G (p.His303Arg) rs397507176 0.00003

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