List of variants reported as pathogenic for nutritional biotin deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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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.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00011
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684

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