List of variants reported as likely pathogenic for Biotinidase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	0.00001
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360	0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	rs397514384	0.00001
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	rs148031701	0.00001
NM_001370658.1(BTD):c.-17_-17+3del	rs1050514843
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	rs397514335
NM_001370658.1(BTD):c.1280A>G (p.His427Arg)
NM_001370658.1(BTD):c.270del (p.Pro91fs)	rs2065521315
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	rs397514352
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)	rs745343884
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	rs397514379
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)	rs2471439603
NM_001370658.1(BTD):c.920dup (p.Asn307fs)	rs2471515729

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