List of variants reported as likely pathogenic for Biotinidase deficiency by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001370658.1(BTD):c.500del (p.Pro167fs)	rs2125500629
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	rs397514376

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