List of variants studied for biotinidase deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 11

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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.820A>G (p.Ile274Val)	rs35976361	0.01187
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	rs1050035768
NM_001370658.1(BTD):c.38_44del (p.Cys13fs)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	rs397514362
NM_001370658.1(BTD):c.430_431del (p.Arg144fs)	rs397514365

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