ClinVar Miner

List of variants in gene BAP1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.*444C>T rs123598 0.03611
NM_004656.4(BAP1):c.376-130T>A rs419604 0.03607
NM_004656.4(BAP1):c.375+111T>G rs34712081 0.01462
NM_004656.4(BAP1):c.2057-59G>A rs114897676 0.01123
NM_004656.4(BAP1):c.*392C>T rs112026686 0.00839
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
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.1026C>T (p.Ser342=) rs71651686 0.00304
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_004656.4(BAP1):c.*37G>A rs139307137 0.00147
NM_004656.4(BAP1):c.519T>C (p.Tyr173=) rs143901408 0.00059
NM_004656.4(BAP1):c.1320G>A (p.Leu440=) rs77722216 0.00056
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004656.4(BAP1):c.1427T>C (p.Val476Ala) rs144060813 0.00044
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790 0.00041
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.1330A>G (p.Thr444Ala) rs374746213 0.00027
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.651C>T (p.Ala217=) rs202170860 0.00016
NM_004656.4(BAP1):c.672C>T (p.His224=) rs756217463 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.659+18G>T rs377298140 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.1344G>A (p.Leu448=) rs368684241 0.00011
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694 0.00009
NM_004656.4(BAP1):c.186C>T (p.Val62=) rs199608453 0.00009
NM_004656.4(BAP1):c.1872G>A (p.Gly624=) rs375950004 0.00009
NM_004656.4(BAP1):c.2013C>T (p.Tyr671=) rs200194082 0.00009
NM_004656.4(BAP1):c.333C>T (p.Thr111=) rs375700254 0.00008
NM_004656.4(BAP1):c.642C>T (p.Ile214=) rs200953639 0.00008
NM_004656.4(BAP1):c.869A>G (p.Asn290Ser) rs747079481 0.00008
NM_004656.4(BAP1):c.1338C>T (p.Asn446=) rs763735807 0.00005
NM_004656.4(BAP1):c.1227G>C (p.Val409=) rs201203425 0.00004
NM_004656.4(BAP1):c.1497C>T (p.Ile499=) rs777417522 0.00004
NM_004656.4(BAP1):c.1725G>A (p.Leu575=) rs748508800 0.00004
NM_004656.4(BAP1):c.384A>C (p.Gly128=) rs777514791 0.00004
NM_004656.4(BAP1):c.681C>T (p.Arg227=) rs772237661 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.1251-12C>T rs924673060 0.00003
NM_004656.4(BAP1):c.1692G>A (p.Leu564=) rs773346448 0.00003
NM_004656.4(BAP1):c.1821G>A (p.Thr607=) rs752063900 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.38-11G>A rs768279336 0.00003
NM_004656.4(BAP1):c.705C>T (p.Pro235=) rs138180791 0.00003
NM_004656.4(BAP1):c.1527G>A (p.Ser509=) rs756500771 0.00002
NM_004656.4(BAP1):c.1611C>T (p.Ser537=) rs773108662 0.00002
NM_004656.4(BAP1):c.2076G>A (p.Val692=) rs747712653 0.00002
NM_004656.4(BAP1):c.738T>C (p.His246=) rs373722238 0.00002
NM_004656.4(BAP1):c.924C>T (p.Asn308=) rs749945143 0.00002
NM_004656.4(BAP1):c.1134G>A (p.Ala378=) rs371493799 0.00001
NM_004656.4(BAP1):c.126T>C (p.Pro42=) rs1156967472 0.00001
NM_004656.4(BAP1):c.1548G>A (p.Pro516=) rs148990823 0.00001
NM_004656.4(BAP1):c.174C>G (p.Ser58=) rs776102639 0.00001
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947 0.00001
NM_004656.4(BAP1):c.1791C>T (p.Ser597=) rs751730111 0.00001
NM_004656.4(BAP1):c.1809C>T (p.Val603=) rs1338737207 0.00001
NM_004656.4(BAP1):c.1956G>A (p.Glu652=) rs761399207 0.00001
NM_004656.4(BAP1):c.2118C>A (p.Ile706=) rs201122466 0.00001
NM_004656.4(BAP1):c.2145T>C (p.Pro715=) rs1057522124 0.00001
NM_004656.4(BAP1):c.376-5C>T rs776641550 0.00001
NM_004656.4(BAP1):c.437+18G>A rs1157072290 0.00001
NM_004656.4(BAP1):c.54C>T (p.Leu18=) rs769459561 0.00001
NM_004656.4(BAP1):c.688C>T (p.Leu230=) rs150084170 0.00001
NM_004656.4(BAP1):c.72C>A (p.Val24=) rs1264275534 0.00001
NC_000003.12:g.52410085A>C rs576999964
NC_000003.12:g.52410205C>T rs545767785
NM_004656.4(BAP1):c.1299T>C (p.Ala433=) rs1553644986
NM_004656.4(BAP1):c.1401T>G (p.Thr467=) rs1578220972
NM_004656.4(BAP1):c.153A>G (p.Lys51=) rs1578228257
NM_004656.4(BAP1):c.1690C>T (p.Leu564=) rs1578220257
NM_004656.4(BAP1):c.1708C>T (p.Leu570=) rs1553644806
NM_004656.4(BAP1):c.1734T>G (p.Gly578=) rs545682192
NM_004656.4(BAP1):c.1890+11G>C rs537090290
NM_004656.4(BAP1):c.189T>C (p.Ser63=) rs1553646013
NM_004656.4(BAP1):c.1947C>T (p.Cys649=) rs1041287605
NM_004656.4(BAP1):c.528C>T (p.Ile176=) rs1057522989
NM_004656.4(BAP1):c.784-14G>T rs1057523584

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