ClinVar Miner

List of variants studied for Biotinidase deficiency by Elsea Laboratory, Baylor College of Medicine

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Total variants: 3
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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.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022

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