List of variants studied for biotinidase deficiency by Molecular Genetics Diagnostic Laboratory, Detroit Medical Center University Laboratories

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00007
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	rs587783002	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.1312dup (p.Cys438fs)	rs587783007
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	rs587783003
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly)	rs587783004
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005
NM_001370658.1(BTD):c.838A>C (p.Asn280His)	rs587783006

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