ClinVar Miner

List of variants studied for Biotinidase deficiency by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388

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