ClinVar Miner

List of variants in gene BTD reported as likely benign for biotinidase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799 0.00133
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001370658.1(BTD):c.252T>C (p.Asp84=) rs138545268 0.00056
NM_001370658.1(BTD):c.825C>T (p.Asn275=) rs145379955 0.00050
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_001370658.1(BTD):c.411C>T (p.Arg137=) rs141240202 0.00041
NM_001370658.1(BTD):c.430A>C (p.Arg144=) rs556096072 0.00023
NM_001370658.1(BTD):c.400-4C>T rs372355662 0.00013
NM_001370658.1(BTD):c.1362A>G (p.Glu454=) rs189789794 0.00011
NM_001370658.1(BTD):c.1438C>T (p.Leu480=) rs150206202 0.00011
NM_001370658.1(BTD):c.603C>T (p.Phe201=) rs142418812 0.00011
NM_001370658.1(BTD):c.645C>A (p.Pro215=) rs140769832 0.00010
NM_001370658.1(BTD):c.1047G>A (p.Pro349=) rs140890299 0.00009
NM_001370658.1(BTD):c.1344C>T (p.Phe448=) rs781065270 0.00007
NM_001370658.1(BTD):c.1539G>A (p.Ala513=) rs745376296 0.00007
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val) rs201852672 0.00006
NM_001370658.1(BTD):c.522C>T (p.Phe174=) rs750363004 0.00006
NM_001370658.1(BTD):c.1188C>T (p.His396=) rs372039874 0.00005
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.-46T>C rs374044613 0.00004
NM_001370658.1(BTD):c.1014T>C (p.His338=) rs371365798 0.00004
NM_001370658.1(BTD):c.123C>T (p.Ala41=) rs747945967 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881 0.00003
NM_001370658.1(BTD):c.400-10T>G rs750494564 0.00003
NM_001370658.1(BTD):c.72C>T (p.Thr24=) rs765550405 0.00003
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys) rs753466926 0.00003
NM_001370658.1(BTD):c.-17+11G>A rs563797222 0.00002
NM_001370658.1(BTD):c.1311G>A (p.Val437=) rs753880468 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001370658.1(BTD):c.183G>A (p.Glu61=) rs753816877 0.00002
NM_001370658.1(BTD):c.288T>C (p.His96=) rs1261536776 0.00002
NM_001370658.1(BTD):c.534C>T (p.Val178=) rs757159632 0.00002
NM_001370658.1(BTD):c.723C>T (p.Tyr241=) rs372687866 0.00002
NM_001370658.1(BTD):c.741G>A (p.Val247=) rs552436982 0.00002
NM_001370658.1(BTD):c.852A>G (p.Pro284=) rs778024234 0.00002
NM_001370658.1(BTD):c.972C>T (p.Leu324=) rs117806438 0.00002
NM_001370658.1(BTD):c.-17+7A>C rs1453269936 0.00001
NM_001370658.1(BTD):c.-22G>A rs781354864 0.00001
NM_001370658.1(BTD):c.1092C>T (p.Thr364=) rs753278397 0.00001
NM_001370658.1(BTD):c.1101C>T (p.Asn367=) rs756863026 0.00001
NM_001370658.1(BTD):c.1161T>C (p.Pro387=) rs749528636 0.00001
NM_001370658.1(BTD):c.1200T>C (p.Asn400=) rs2065658628 0.00001
NM_001370658.1(BTD):c.1236C>A (p.Thr412=) rs1575030932 0.00001
NM_001370658.1(BTD):c.1377G>A (p.Thr459=) rs535292517 0.00001
NM_001370658.1(BTD):c.1446A>G (p.Ser482=) rs1323842252 0.00001
NM_001370658.1(BTD):c.1470C>T (p.Asp490=) rs1301007653 0.00001
NM_001370658.1(BTD):c.249+15C>T rs760435212 0.00001
NM_001370658.1(BTD):c.255A>C (p.Val85=) rs369304137 0.00001
NM_001370658.1(BTD):c.600A>G (p.Ala200=) rs757071809 0.00001
NM_001370658.1(BTD):c.669C>T (p.Phe223=) rs774761127 0.00001
NM_001370658.1(BTD):c.729G>A (p.Val243=) rs777470168 0.00001
NM_001370658.1(BTD):c.789G>A (p.Glu263=) rs2065643507 0.00001
NM_001370658.1(BTD):c.843C>A (p.Val281=) rs1344958210 0.00001
NM_001370658.1(BTD):c.-16-19T>C
NM_001370658.1(BTD):c.-16-5T>C
NM_001370658.1(BTD):c.-16-7A>G
NM_001370658.1(BTD):c.-16-7A>T
NM_001370658.1(BTD):c.-16-7del
NM_001370658.1(BTD):c.-17+12_-17+27dup
NM_001370658.1(BTD):c.-17+16G>A
NM_001370658.1(BTD):c.-17+16G>C
NM_001370658.1(BTD):c.-17+20C>A
NM_001370658.1(BTD):c.-17+20_-17+40dup
NM_001370658.1(BTD):c.-17+23_-17+27dup rs775790954
NM_001370658.1(BTD):c.-17+7A>G
NM_001370658.1(BTD):c.-17+7A>T
NM_001370658.1(BTD):c.-17+8G>C
NM_001370658.1(BTD):c.-1T>C
NM_001370658.1(BTD):c.-28C>T rs2125312689
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
NM_001370658.1(BTD):c.1026A>G (p.Leu342=) rs1367244547
NM_001370658.1(BTD):c.1035G>A (p.Leu345=) rs768786956
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
NM_001370658.1(BTD):c.1041C>A (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
NM_001370658.1(BTD):c.1068G>A (p.Gln356=) rs891263072
NM_001370658.1(BTD):c.1077C>T (p.His359=)
NM_001370658.1(BTD):c.1086G>A (p.Glu362=) rs1559600186
NM_001370658.1(BTD):c.1092C>A (p.Thr364=) rs753278397
NM_001370658.1(BTD):c.1104G>T (p.Val368=) rs750109648
NM_001370658.1(BTD):c.1110T>C (p.Ala370=) rs1473669802
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
NM_001370658.1(BTD):c.1143C>T (p.Asp381=) rs2125504297
NM_001370658.1(BTD):c.114T>C (p.Tyr38=) rs2125453888
NM_001370658.1(BTD):c.1158C>A (p.Val386=) rs956882463
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
NM_001370658.1(BTD):c.1170A>C (p.Gly390=) rs975896326
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=) rs368320941
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
NM_001370658.1(BTD):c.1203C>T (p.Gly401=) rs2125504914
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
NM_001370658.1(BTD):c.1236C>T (p.Thr412=) rs1575030932
NM_001370658.1(BTD):c.1248G>A (p.Glu416=) rs1208591351
NM_001370658.1(BTD):c.1251G>C (p.Leu417=) rs771116095
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
NM_001370658.1(BTD):c.1275G>T (p.Gly425=) rs2065662696
NM_001370658.1(BTD):c.129T>C (p.Tyr43=) rs2125453999
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
NM_001370658.1(BTD):c.1396C>T (p.Leu466=) rs2125506331
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
NM_001370658.1(BTD):c.1419C>G (p.Ser473=) rs1269007233
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
NM_001370658.1(BTD):c.1515G>A (p.Arg505=) rs2125507062
NM_001370658.1(BTD):c.1527G>A (p.Gly509=) rs1388523400
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
NM_001370658.1(BTD):c.204G>A (p.Gln68=) rs781457122
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
NM_001370658.1(BTD):c.225G>A (p.Gln75=) rs1423985186
NM_001370658.1(BTD):c.249+19A>C
NM_001370658.1(BTD):c.250-15T>C
NM_001370658.1(BTD):c.250-16A>T
NM_001370658.1(BTD):c.250-18T>C
NM_001370658.1(BTD):c.267G>T (p.Val89=) rs2125485561
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
NM_001370658.1(BTD):c.339G>T (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.345C>T (p.Pro115=) rs767937184
NM_001370658.1(BTD):c.357G>A (p.Arg119=) rs2125486415
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
NM_001370658.1(BTD):c.399+10G>A
NM_001370658.1(BTD):c.399+19C>T
NM_001370658.1(BTD):c.399+6dup
NM_001370658.1(BTD):c.399+8C>T
NM_001370658.1(BTD):c.399+8del rs2125487004
NM_001370658.1(BTD):c.400-16C>T
NM_001370658.1(BTD):c.400-18C>T
NM_001370658.1(BTD):c.400-6C>T rs2125499988
NM_001370658.1(BTD):c.400-7C>T
NM_001370658.1(BTD):c.400-8T>C rs758512428
NM_001370658.1(BTD):c.402G>A (p.Val134=) rs1003151133
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
NM_001370658.1(BTD):c.417T>C (p.Ser139=) rs2125500181
NM_001370658.1(BTD):c.429C>T (p.Ile143=) rs2065628963
NM_001370658.1(BTD):c.435A>T (p.Gly145=) rs2125500346
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
NM_001370658.1(BTD):c.525C>T (p.Asn175=) rs2125500784
NM_001370658.1(BTD):c.534C>G (p.Val178=) rs757159632
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
NM_001370658.1(BTD):c.672A>G (p.Thr224=) rs777224767
NM_001370658.1(BTD):c.687G>A (p.Leu229=) rs2125501752
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
NM_001370658.1(BTD):c.711C>T (p.Val237=)
NM_001370658.1(BTD):c.714C>T (p.Leu238=) rs2125501926
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
NM_001370658.1(BTD):c.762C>T (p.Asn254=) rs2065642615
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
NM_001370658.1(BTD):c.81G>A (p.Glu27=) rs530566306
NM_001370658.1(BTD):c.846C>T (p.His282=)
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
NM_001370658.1(BTD):c.855T>G (p.Val285=) rs2125502708
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
NM_001370658.1(BTD):c.894G>A (p.Glu298=) rs2125502955
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
NM_001370658.1(BTD):c.963A>T (p.Pro321=) rs1313683563
NM_001370658.1(BTD):c.96T>C (p.His32=)
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
NM_001370658.1(BTD):c.978T>G (p.Gly326=) rs2125503475
NM_001370658.1(BTD):c.99C>T (p.His33=) rs397514337

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