ClinVar Miner

List of variants studied for Biotinidase deficiency by GeneReviews

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Total variants: 5
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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.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00035
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00010
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684

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