List of variants reported as pathogenic for Biotinidase deficiency by Natera, Inc.

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Total variants: 34

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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.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_001370658.1(BTD):c.410G>A (p.Arg137His)	rs146015592	0.00016
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00012
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00010
NM_001370658.1(BTD):c.566G>A (p.Arg189His)	rs398123139	0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	rs28934601	0.00005
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs)	rs397514420	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	rs397514363	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)	rs397514370	0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	rs190386869	0.00001
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005	0.00001
NM_001370658.1(BTD):c.-17+1G>A	rs1057516440
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	rs397514404
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	rs397514335
NM_001370658.1(BTD):c.1215T>A (p.Tyr405Ter)
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)	rs1205964567
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	rs398123138
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
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.577del (p.His193fs)	rs780874850
NM_001370658.1(BTD):c.992del (p.Thr331fs)	rs397514398

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