ClinVar Miner

List of variants reported as likely pathogenic for biotinidase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
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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 0.00012
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
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.566G>A (p.Arg189His) rs398123139 0.00006
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.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
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.468G>T (p.Lys156Asn) rs397514367 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 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.1379G>A (p.Gly460Glu) rs558477960 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 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.1147T>G (p.Phe383Val) rs104893686 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.1252T>C (p.Tyr418His) rs1279500513 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp) rs200507575 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423 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.1559A>G (p.Tyr520Cys) rs397514431 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.253G>A (p.Val85Ile) rs1385213836 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.399G>A (p.Glu133=) rs397514360 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.425C>T (p.Ala142Val) rs397514364 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.641C>T (p.Thr214Ile) rs587783005 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.755G>A (p.Trp252Ter) rs148031701 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter) rs1303877451 0.00001
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-16-2A>C
NM_001370658.1(BTD):c.-16-4_-14del
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.-6del rs2471438307
NM_001370658.1(BTD):c.1000del (p.Thr334fs) rs2471516565
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.1127_1128del (p.His375_Ser376insTer)
NM_001370658.1(BTD):c.1134delinsAA (p.Met378fs)
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406
NM_001370658.1(BTD):c.1167G>A (p.Trp389Ter)
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.1243A>T (p.Lys415Ter)
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
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) rs780281959
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)
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.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1334del (p.Gly445fs) rs397514440
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) rs773350924
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter) rs2471521697
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.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser) rs104893692
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs1553654190
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) rs2471441254
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1499del (p.Phe500fs)
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) rs2471441898
NM_001370658.1(BTD):c.177_178del (p.Gln60fs) rs2471442152
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter) rs2065328619
NM_001370658.1(BTD):c.229G>A (p.Val77Met) rs1559592900
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.250-1G>A
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.250-2A>G
NM_001370658.1(BTD):c.253_254dup (p.Gln86fs) rs2471487911
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.270del (p.Pro91fs) rs2065521315
NM_001370658.1(BTD):c.270dup (p.Pro91fs)
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.311C>T (p.Ser104Phe)
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser) rs397514357
NM_001370658.1(BTD):c.3G>A (p.Met1Ile)
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr) rs745343884
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser) rs745343884
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.430del (p.Arg144fs) rs2471509283
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter) rs2471509696
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.499C>T (p.Pro167Ser) rs397507173
NM_001370658.1(BTD):c.500del (p.Pro167fs) rs2125500629
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) rs2471439426
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg) rs2471510851
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs) rs2125453296
NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter)
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850
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) rs2471439603
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala) rs2471511997
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter) rs767518580
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.683dup (p.Leu229fs) rs2471512663
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.70_71del (p.Thr24fs) rs2471439812
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.763C>T (p.Gln255Ter)
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.782C>T (p.Ala261Val)
NM_001370658.1(BTD):c.799del (p.Ala267fs) rs2471514282
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.845A>G (p.His282Arg)
NM_001370658.1(BTD):c.872G>A (p.Ser291Asn) rs397514394
NM_001370658.1(BTD):c.875G>T (p.Gly292Val) rs377651057
NM_001370658.1(BTD):c.881A>T (p.His294Leu) rs1553653888
NM_001370658.1(BTD):c.887del (p.Pro296fs) rs2471515333
NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter) rs746332288
NM_001370658.1(BTD):c.91_92del (p.Asp31fs) rs2471440173
NM_001370658.1(BTD):c.920dup (p.Asn307fs) rs2471515729
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513

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