List of variants reported as likely pathogenic for biotinidase deficiency

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 169

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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.1372G>A (p.Ala458Thr)	rs181396238	0.00014
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	rs201604102	0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	rs976185636	0.00009
NM_001370658.1(BTD):c.383G>A (p.Arg128His)	rs367902696	0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	rs369102875	0.00005
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	rs397514345	0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs)	rs397514395	0.00004
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	rs397514427	0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)	rs1050035768	0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	rs397514355	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	rs397514377	0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg)	rs397507176	0.00003
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	rs104893686	0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	rs104893692	0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_001370658.1(BTD):c.-17+2T>C	rs745648160	0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)	rs397514406	0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	rs397514410	0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	rs397514412	0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)	rs749460715	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	rs397514402	0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs)	rs397514420	0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	rs558477960	0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	rs771537277	0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His)	rs397514343	0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	rs587783002	0.00001
NM_001370658.1(BTD):c.249+1G>T	rs373249212	0.00001
NM_001370658.1(BTD):c.250-15del	rs587783008	0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)	rs372416959	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	rs575787457	0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	rs1306944669	0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	rs397514359	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.571C>T (p.Arg191Cys)	rs372844636	0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His)	rs112195009	0.00001
NM_001370658.1(BTD):c.577del (p.His193fs)	rs780874850	0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	rs397514381	0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	rs397507175	0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	rs397514382	0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	rs397514383	0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	rs397514384	0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	rs397514387	0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	rs749162799	0.00001
NM_001370658.1(BTD):c.-17+1G>A	rs1057516440
NM_001370658.1(BTD):c.-17+1G>C	rs1057516440
NM_001370658.1(BTD):c.-17+1G>T	rs1057516440
NM_001370658.1(BTD):c.-17+1del	rs1057517114
NM_001370658.1(BTD):c.-17_-17+3del	rs1050514843
NM_001370658.1(BTD):c.-18A>T	rs143058480
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.-6del
NM_001370658.1(BTD):c.1000del (p.Thr334fs)
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	rs747548016
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)	rs1057516252
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	rs397514434
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)	rs1057517256
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	rs397514404
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	rs397514408
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	rs397514335
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)	rs1057517225
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)	rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	rs397514416
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)	rs1575031012
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1264del (p.Val422fs)	rs1057517362
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)	rs2065662435
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)	rs397514418
NM_001370658.1(BTD):c.1280A>G (p.His427Arg)
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	rs1553654142
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)	rs1553654145
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)	rs146600671
NM_001370658.1(BTD):c.1334del (p.Gly445fs)
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	rs886041559
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	rs181396238
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	rs1559600871
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)	rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs)	rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)	rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	rs1553654186
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)	rs796051941
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	rs1559600938
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)	rs1205964567
NM_001370658.1(BTD):c.143_146dup (p.Ser50fs)
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)	rs1559601041
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)	rs1553654220
NM_001370658.1(BTD):c.1503del (p.Arg502fs)	rs1163419871
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)	rs397514428
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	rs80338686
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	rs1050035768
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)	rs397514350
NM_001370658.1(BTD):c.250-1G>T	rs1553653053
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.253_254dup (p.Gln86fs)
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	rs1553653062
NM_001370658.1(BTD):c.270del (p.Pro91fs)
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	rs397514352
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)	rs1057516223
NM_001370658.1(BTD):c.333del (p.Phe111fs)	rs397514356
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	rs397514357
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.399G>A (p.Glu133=)	rs397514360
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)	rs144717999
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)	rs1249246307
NM_001370658.1(BTD):c.430_431del (p.Arg144fs)	rs397514365
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	rs750965140
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	rs1057516812
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)	rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)	rs955385869
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)	rs766476582
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	rs750363004
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)	rs397514371
NM_001370658.1(BTD):c.527del (p.Thr176fs)	rs1553653680
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)	rs1575029290
NM_001370658.1(BTD):c.52del (p.Val18fs)
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	rs397507174
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)	rs1553653732
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	rs1553652080
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	rs397514379
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	rs397514380
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)	rs398123140
NM_001370658.1(BTD):c.683dup (p.Leu229fs)
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)	rs397514438
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)	rs1575029719
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)	rs1190721481
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	rs148031701
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	rs397514389
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	rs1057520533
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)	rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	rs1157567876
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001370658.1(BTD):c.887del (p.Pro296fs)
NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)
NM_001370658.1(BTD):c.91_92del (p.Asp31fs)
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
NM_001370658.1(BTD):c.932_941del (p.His311fs)	rs773137513

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