ClinVar Miner

List of variants reported as uncertain significance for Biotinidase deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.38_44del (p.Cys13fs)	rs2471439040

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