ClinVar Miner

List of variants reported as likely pathogenic for Biotinidase deficiency by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001

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