ClinVar Miner

List of variants in gene BAP1 reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342 0.02383
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_004656.4(BAP1):c.1891-30G>C rs146661777 0.00328
NM_004656.4(BAP1):c.660-26T>A rs139414598 0.00328
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_004656.4(BAP1):c.1250+42G>A rs150454901 0.00257
NM_004656.4(BAP1):c.2057-22A>C rs144083199 0.00246
NM_004656.4(BAP1):c.123-48T>G rs143273211 0.00235
NM_004656.4(BAP1):c.*37G>A rs139307137 0.00147
NM_004656.4(BAP1):c.931+36A>T rs376200445 0.00108
NM_004656.4(BAP1):c.519T>C (p.Tyr173=) rs143901408 0.00059
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004656.4(BAP1):c.376-50C>T rs370668123 0.00055
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883 0.00037
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_004656.4(BAP1):c.932-38C>T rs200846682 0.00021
NM_004656.4(BAP1):c.376-4G>A rs369277958 0.00016
NM_004656.4(BAP1):c.534C>T (p.Gly178=) rs200285587 0.00016
NM_004656.4(BAP1):c.912C>A (p.Ala304=) rs201809705 0.00016
NM_004656.4(BAP1):c.1407C>T (p.Ser469=) rs150524807 0.00015
NM_004656.4(BAP1):c.2091C>T (p.Ser697=) rs754513396 0.00014
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_004656.4(BAP1):c.879G>A (p.Pro293=) rs200787553 0.00013
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667 0.00011
NM_004656.4(BAP1):c.1116+40C>T rs373554042 0.00009
NM_004656.4(BAP1):c.1872G>A (p.Gly624=) rs375950004 0.00009
NM_004656.4(BAP1):c.642C>T (p.Ile214=) rs200953639 0.00008
NM_004656.4(BAP1):c.1749G>A (p.Ser583=) rs147775249 0.00007
NM_004656.4(BAP1):c.1116+50G>A rs756419402 0.00006
NM_004656.4(BAP1):c.37+31G>C rs200628603 0.00006
NM_004656.4(BAP1):c.1461C>T (p.Thr487=) rs762466375 0.00004
NM_004656.4(BAP1):c.255+22G>C rs761358401 0.00004
NM_004656.4(BAP1):c.659+17T>A rs753960146 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn) rs765347562 0.00003
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser) rs915913191 0.00003
NM_004656.4(BAP1):c.1890+11G>A rs537090290 0.00003
NM_004656.4(BAP1):c.1944G>A (p.Ala648=) rs150494756 0.00003
NM_004656.4(BAP1):c.2103C>T (p.Arg701=) rs757780962 0.00003
NM_004656.4(BAP1):c.255+6_255+7insA rs778194859 0.00003
NM_004656.4(BAP1):c.783+12T>G rs749694454 0.00003
NM_004656.4(BAP1):c.783+15T>G rs769511685 0.00003
NM_004656.4(BAP1):c.210C>T (p.Ser70=) rs558581070 0.00002
NM_004656.4(BAP1):c.597C>T (p.Asp199=) rs747458975 0.00002
NM_004656.4(BAP1):c.648C>T (p.Leu216=) rs758650064 0.00002
NM_004656.4(BAP1):c.1165C>T (p.Arg389Cys) rs373809972 0.00001
NM_004656.4(BAP1):c.1166G>A (p.Arg389His) rs770778299 0.00001
NM_004656.4(BAP1):c.1251-3C>T rs767276752 0.00001
NM_004656.4(BAP1):c.1548G>A (p.Pro516=) rs148990823 0.00001
NM_004656.4(BAP1):c.1663C>A (p.Pro555Thr) rs753264498 0.00001
NM_004656.4(BAP1):c.1669A>G (p.Ile557Val) rs776549962 0.00001
NM_004656.4(BAP1):c.2158C>T (p.Arg720Cys) rs759611495 0.00001
NM_004656.4(BAP1):c.256-18C>T rs1379738285 0.00001
NM_004656.4(BAP1):c.341G>A (p.Arg114His) rs773494626 0.00001
NM_004656.4(BAP1):c.360G>A (p.Lys120=) rs749405309 0.00001
NM_004656.4(BAP1):c.405G>A (p.Pro135=) rs768046980 0.00001
NM_004656.4(BAP1):c.423T>C (p.His141=) rs757571975 0.00001
NM_004656.4(BAP1):c.438-2A>G rs587776879 0.00001
NM_004656.4(BAP1):c.487C>T (p.Arg163Trp) rs1385279115 0.00001
NM_004656.4(BAP1):c.54C>T (p.Leu18=) rs769459561 0.00001
NM_004656.4(BAP1):c.581-4C>T rs1578225974 0.00001
NM_004656.4(BAP1):c.588G>C (p.Trp196Cys) rs1193212091 0.00001
NM_004656.4(BAP1):c.67+46C>T rs775402861 0.00001
NM_004656.4(BAP1):c.67+5G>C rs1033651300 0.00001
NM_004656.4(BAP1):c.720G>A (p.Lys240=) rs1379682858 0.00001
NM_004656.4(BAP1):c.783+2T>C rs774730309 0.00001
NM_004656.4(BAP1):c.*17C>G
NM_004656.4(BAP1):c.*37G>C
NM_004656.4(BAP1):c.*45C>G rs56898787
NM_004656.4(BAP1):c.-15C>T rs1705320930
NM_004656.4(BAP1):c.1065G>A (p.Gln355=)
NM_004656.4(BAP1):c.1117-40G>A rs145366930
NM_004656.4(BAP1):c.1209dup (p.Asp404Ter) rs2153226844
NM_004656.4(BAP1):c.1218G>A (p.Glu406=)
NM_004656.4(BAP1):c.1250+30T>G
NM_004656.4(BAP1):c.1251-11G>C rs981419588
NM_004656.4(BAP1):c.1251-34G>A
NM_004656.4(BAP1):c.1363T>C (p.Ser455Pro) rs1559586983
NM_004656.4(BAP1):c.1544A>G (p.Asn515Ser) rs2153226674
NM_004656.4(BAP1):c.1708C>G (p.Leu570Val)
NM_004656.4(BAP1):c.1715C>T (p.Pro572Leu) rs1553644798
NM_004656.4(BAP1):c.1729+39C>G
NM_004656.4(BAP1):c.1729G>A (p.Glu577Lys) rs1705034786
NM_004656.4(BAP1):c.1730-42T>G
NM_004656.4(BAP1):c.1730-4C>T
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu) rs142059527
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val) rs144993791
NM_004656.4(BAP1):c.1891-36C>T
NM_004656.4(BAP1):c.1891-39G>A rs371637639
NM_004656.4(BAP1):c.1891-39G>C
NM_004656.4(BAP1):c.1926G>C (p.Glu642Asp) rs1386810597
NM_004656.4(BAP1):c.1936_1937insTT (p.Tyr646fs)
NM_004656.4(BAP1):c.1976A>G (p.Lys659Arg)
NM_004656.4(BAP1):c.1983+25A>T
NM_004656.4(BAP1):c.1984-46C>T
NM_004656.4(BAP1):c.2056+27T>C
NM_004656.4(BAP1):c.2056+38G>T
NM_004656.4(BAP1):c.2056+39C>T
NM_004656.4(BAP1):c.2056+47C>T
NM_004656.4(BAP1):c.2057-16C>T rs369116884
NM_004656.4(BAP1):c.2057-2A>C
NM_004656.4(BAP1):c.2070C>T (p.Asn690=) rs1553644559
NM_004656.4(BAP1):c.2096G>A (p.Arg699Gln) rs1466334306
NM_004656.4(BAP1):c.2189G>A (p.Ter730=) rs771713346
NM_004656.4(BAP1):c.240G>A (p.Met80Ile) rs755878197
NM_004656.4(BAP1):c.256-49dup rs2153228191
NM_004656.4(BAP1):c.37+12A>G
NM_004656.4(BAP1):c.37+35A>T
NM_004656.4(BAP1):c.375+16T>A rs745645585
NM_004656.4(BAP1):c.375+1G>A
NM_004656.4(BAP1):c.376-23C>T
NM_004656.4(BAP1):c.376-38G>T
NM_004656.4(BAP1):c.376-46C>T
NM_004656.4(BAP1):c.38-41C>G
NM_004656.4(BAP1):c.38-6A>T rs1578230960
NM_004656.4(BAP1):c.39C>T (p.Gly13=)
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_004656.4(BAP1):c.437+15_437+23del rs755685938
NM_004656.4(BAP1):c.581-16T>C rs573678535
NM_004656.4(BAP1):c.581-28G>A
NM_004656.4(BAP1):c.581-2A>G rs1430317959
NM_004656.4(BAP1):c.581-43C>T
NM_004656.4(BAP1):c.587G>C (p.Trp196Ser) rs1553645725
NM_004656.4(BAP1):c.659+14G>T rs1461632762
NM_004656.4(BAP1):c.660-40G>C
NM_004656.4(BAP1):c.67+23G>A
NM_004656.4(BAP1):c.67+26C>A
NM_004656.4(BAP1):c.67+27C>T rs539725123
NM_004656.4(BAP1):c.68-26C>T
NM_004656.4(BAP1):c.68-38G>T rs375406375
NM_004656.4(BAP1):c.68-48A>T
NM_004656.4(BAP1):c.706G>A (p.Asp236Asn) rs1559589762
NM_004656.4(BAP1):c.783+37A>G
NM_004656.4(BAP1):c.783+3A>G
NM_004656.4(BAP1):c.784-27C>T
NM_004656.4(BAP1):c.882G>A (p.Leu294=) rs768447095
NM_004656.4(BAP1):c.931+43C>T
NM_004656.4(BAP1):c.931+4C>G rs1559589067

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