ClinVar Miner

List of variants in gene TBCK studied for hypotonia, infantile, with psychomotor retardation and characteristic facies 3

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu) rs3775091 0.99817
NM_001163435.3(TBCK):c.1898-20G>T rs45462491 0.00895
NM_001163435.3(TBCK):c.974T>C (p.Val325Ala) rs145386125 0.00103
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr) rs150221832 0.00008
NM_001163435.3(TBCK):c.2060-2A>G rs62321379 0.00005
NM_001163435.3(TBCK):c.2368A>G (p.Ser790Gly) rs149002761 0.00005
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001163435.3(TBCK):c.2284C>T (p.Arg762Trp) rs748323368 0.00003
NM_001163435.3(TBCK):c.2420G>C (p.Arg807Pro) rs767308208 0.00003
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_001163435.3(TBCK):c.2428A>G (p.Ile810Val) rs775830620 0.00002
NM_001163435.3(TBCK):c.658+4A>G rs745752734 0.00002
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00001
NM_001163435.3(TBCK):c.2370T>G (p.Ser790Arg) rs1176913216 0.00001
NM_001163435.3(TBCK):c.389T>A (p.Ile130Asn) rs1213724402 0.00001
NM_001163435.3(TBCK):c.456-2A>G rs780527809 0.00001
NM_001163435.3(TBCK):c.60A>C (p.Pro20=) rs775570874 0.00001
GRCh37/hg19 4q24(chr4:107092252-107092428)
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
NC_000004.12:g.106168703_106217941del
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
NM_001163435.3(TBCK):c.110A>T (p.Lys37Ile) rs755840392
NM_001163435.3(TBCK):c.1162C>A (p.Leu388Ile) rs773606670
NM_001163435.3(TBCK):c.1170+1G>A rs765407874
NM_001163435.3(TBCK):c.1220+5G>A rs1759516319
NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter) rs2150010400
NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys) rs1579346494
NM_001163435.3(TBCK):c.134T>G (p.Leu45Arg)
NM_001163435.3(TBCK):c.1351-1G>A rs1759337270
NM_001163435.3(TBCK):c.1370del (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs) rs746860249
NM_001163435.3(TBCK):c.1381A>G (p.Lys461Glu)
NM_001163435.3(TBCK):c.1405C>G (p.Pro469Ala)
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His) rs869320711
NM_001163435.3(TBCK):c.1584dup (p.Arg529Ter) rs1759036277
NM_001163435.3(TBCK):c.1588C>T (p.Arg530Cys)
NM_001163435.3(TBCK):c.1727_1728insGAAGTT (p.Lys576_Tyr577insLysLeu)
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter) rs1057518332
NM_001163435.3(TBCK):c.1854del (p.Pro619fs) rs1579257340
NM_001163435.3(TBCK):c.1860+1G>A rs1303851095
NM_001163435.3(TBCK):c.1860+2T>A
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys) rs1579198447
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys) rs1579198426
NM_001163435.3(TBCK):c.1888_1889del (p.Met630fs)
NM_001163435.3(TBCK):c.193+1G>T rs1767828321
NM_001163435.3(TBCK):c.193+2dup
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_001163435.3(TBCK):c.2060_2235+1del rs1560755661
NM_001163435.3(TBCK):c.2060_2235del (p.Glu687fs) rs2149737591
NM_001163435.3(TBCK):c.2088A>C (p.Glu696Asp) rs1750972768
NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter) rs1750962854
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter) rs1750958862
NM_001163435.3(TBCK):c.347C>T (p.Ala116Val) rs2150100848
NM_001163435.3(TBCK):c.360_363del (p.His120fs) rs1560929669
NM_001163435.3(TBCK):c.381+1G>A rs1762560983
NM_001163435.3(TBCK):c.454G>C (p.Gly152Arg) rs1762393554
NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)
NM_001163435.3(TBCK):c.531dup (p.Pro178fs) rs1560911619
NM_001163435.3(TBCK):c.557A>G (p.Asp186Gly) rs2150065916
NM_001163435.3(TBCK):c.659-1G>A rs1579391376
NM_001163435.3(TBCK):c.677T>A (p.Leu226Ter) rs758167759
NM_001163435.3(TBCK):c.737_738del (p.Val246fs) rs2150053706
NM_001163435.3(TBCK):c.753dup (p.Lys252Ter) rs1131691329
NM_001163435.3(TBCK):c.783G>T (p.Arg261Ser) rs1476004978
NM_001163435.3(TBCK):c.803_806del (p.Met268fs) rs771481304
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs) rs869320769

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