List of variants in gene BTD reported as not provided for Biotinidase deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.68A>G (p.His23Arg)	rs146011150	0.00042
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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