ClinVar Miner

List of variants studied for Biotinidase deficiency by SingHealth Duke-NUS Institute of Precision 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.577del (p.His193fs)	rs780874850	0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001

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