List of variants reported as pathogenic for Biotinidase deficiency by Revvity Omics, Revvity

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Total variants: 12

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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.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00012
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00010
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)	rs2471516926
NM_001370658.1(BTD):c.1103dup (p.Asn369fs)	rs2125504069
NM_001370658.1(BTD):c.1204dup (p.Leu402fs)	rs397514411
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_001370658.1(BTD):c.500del (p.Pro167fs)	rs2125500629

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