ClinVar Miner

List of variants in gene BAP1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_004656.4(BAP1):c.404C>T (p.Pro135Leu) rs374928824 0.00017
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00012
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu) rs140998455 0.00011
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667 0.00011
NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly) rs747109385 0.00009
NM_004656.4(BAP1):c.186C>T (p.Val62=) rs199608453 0.00009
NM_004656.4(BAP1):c.2095C>A (p.Arg699=) rs372987719 0.00008
NM_004656.4(BAP1):c.838C>A (p.Gln280Lys) rs746045584 0.00008
NM_004656.4(BAP1):c.1781G>C (p.Gly594Ala) rs144172190 0.00006
NM_004656.4(BAP1):c.1031A>G (p.Asn344Ser) rs142887785 0.00005
NM_004656.4(BAP1):c.1045A>G (p.Asn349Asp) rs765742255 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys) rs748928044 0.00004
NM_004656.4(BAP1):c.1227G>C (p.Val409=) rs201203425 0.00004
NM_004656.4(BAP1):c.1442A>G (p.His481Arg) rs150441842 0.00004
NM_004656.4(BAP1):c.1810G>A (p.Val604Met) rs369065146 0.00004
NM_004656.4(BAP1):c.1891-59C>A rs755020488 0.00004
NM_004656.4(BAP1):c.1931C>T (p.Ala644Val) rs551399575 0.00004
NM_004656.4(BAP1):c.206C>T (p.Thr69Met) rs572063023 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.944A>C (p.Glu315Ala) rs149974450 0.00004
NM_004656.4(BAP1):c.1058T>C (p.Ile353Thr) rs754217069 0.00003
NM_004656.4(BAP1):c.1066C>T (p.Arg356Trp) rs761029538 0.00003
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004656.4(BAP1):c.1218G>T (p.Glu406Asp) rs752703914 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.1339G>A (p.Val447Ile) rs762654322 0.00003
NM_004656.4(BAP1):c.316G>A (p.Val106Met) rs754385495 0.00003
NM_004656.4(BAP1):c.1049C>T (p.Pro350Leu) rs1454833874 0.00002
NM_004656.4(BAP1):c.1251-11G>A rs981419588 0.00002
NM_004656.4(BAP1):c.1290C>T (p.Ser430=) rs773592865 0.00002
NM_004656.4(BAP1):c.1345G>A (p.Ala449Thr) rs764734266 0.00002
NM_004656.4(BAP1):c.1441C>A (p.His481Asn) rs764816701 0.00002
NM_004656.4(BAP1):c.1843A>G (p.Met615Val) rs1183229867 0.00002
NM_004656.4(BAP1):c.797C>T (p.Thr266Ile) rs769338697 0.00002
NM_004656.4(BAP1):c.-6G>A rs758722091 0.00001
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile) rs1291142030 0.00001
NM_004656.4(BAP1):c.1057A>G (p.Ile353Val) rs1454672768 0.00001
NM_004656.4(BAP1):c.1129C>G (p.Leu377Val) rs376033003 0.00001
NM_004656.4(BAP1):c.1131G>A (p.Leu377=) rs572089064 0.00001
NM_004656.4(BAP1):c.1148G>A (p.Arg383His) rs374620220 0.00001
NM_004656.4(BAP1):c.1154G>A (p.Arg385Gln) rs765258055 0.00001
NM_004656.4(BAP1):c.1160C>A (p.Pro387Gln) rs1404481415 0.00001
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.1179G>T (p.Gln393His) rs771803950 0.00001
NM_004656.4(BAP1):c.1208A>G (p.Asp403Gly) rs746308215 0.00001
NM_004656.4(BAP1):c.1251-6C>A rs1249050822 0.00001
NM_004656.4(BAP1):c.1253A>G (p.Tyr418Cys) rs773947541 0.00001
NM_004656.4(BAP1):c.1331C>T (p.Thr444Ile) rs1290996849 0.00001
NM_004656.4(BAP1):c.1349A>G (p.Glu450Gly) rs1459047463 0.00001
NM_004656.4(BAP1):c.1354C>T (p.Leu452Phe) rs1273586744 0.00001
NM_004656.4(BAP1):c.1393A>G (p.Ile465Val) rs150029305 0.00001
NM_004656.4(BAP1):c.1439C>T (p.Thr480Ile) rs752302472 0.00001
NM_004656.4(BAP1):c.1547C>T (p.Pro516Leu) rs755719248 0.00001
NM_004656.4(BAP1):c.1555C>T (p.Pro519Ser) rs759622893 0.00001
NM_004656.4(BAP1):c.1651C>T (p.Arg551Cys) rs755664216 0.00001
NM_004656.4(BAP1):c.1669A>G (p.Ile557Val) rs776549962 0.00001
NM_004656.4(BAP1):c.1678G>A (p.Gly560Ser) rs546888007 0.00001
NM_004656.4(BAP1):c.1721C>T (p.Ala574Val) rs761596789 0.00001
NM_004656.4(BAP1):c.1748C>T (p.Ser583Leu) rs369259771 0.00001
NM_004656.4(BAP1):c.1751C>A (p.Pro584His) rs374877744 0.00001
NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu) rs756472919 0.00001
NM_004656.4(BAP1):c.1790G>T (p.Ser597Ile) rs556046793 0.00001
NM_004656.4(BAP1):c.1793C>G (p.Pro598Arg) rs763927840 0.00001
NM_004656.4(BAP1):c.1820C>T (p.Thr607Met) rs770654975 0.00001
NM_004656.4(BAP1):c.1833G>C (p.Glu611Asp) rs771494475 0.00001
NM_004656.4(BAP1):c.1943C>T (p.Ala648Val) rs755915077 0.00001
NM_004656.4(BAP1):c.1951_1953del (p.Lys651del) rs1226165465 0.00001
NM_004656.4(BAP1):c.2150G>A (p.Arg717Gln) rs765539314 0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr) rs1338231889 0.00001
NM_004656.4(BAP1):c.341G>A (p.Arg114His) rs773494626 0.00001
NM_004656.4(BAP1):c.38-13T>C rs1559593177 0.00001
NM_004656.4(BAP1):c.438-3C>T rs1240586632 0.00001
NM_004656.4(BAP1):c.458C>A (p.Pro153His) rs1306568192 0.00001
NM_004656.4(BAP1):c.572T>C (p.Ile191Thr) rs752793866 0.00001
NM_004656.4(BAP1):c.631A>G (p.Met211Val) rs1578225825 0.00001
NM_004656.4(BAP1):c.722A>G (p.Tyr241Cys) rs367867008 0.00001
NM_004656.4(BAP1):c.755G>A (p.Arg252His) rs759024400 0.00001
NM_004656.4(BAP1):c.783+2T>C rs774730309 0.00001
NM_004656.4(BAP1):c.787A>G (p.Ile263Val) rs370841382 0.00001
NM_004656.4(BAP1):c.832G>A (p.Glu278Lys) rs892726365 0.00001
NM_004656.4(BAP1):c.947C>T (p.Ala316Val) rs1365625070 0.00001
NM_004656.4(BAP1):c.1012C>G (p.Pro338Ala)
NM_004656.4(BAP1):c.1020C>T (p.Gly340=) rs1553645312
NM_004656.4(BAP1):c.108G>T (p.Gln36His) rs2153228521
NM_004656.4(BAP1):c.1140T>C (p.Gly380=)
NM_004656.4(BAP1):c.1153C>G (p.Arg385Gly)
NM_004656.4(BAP1):c.1168C>A (p.Pro390Thr) rs1425178905
NM_004656.4(BAP1):c.1183T>C (p.Ser395Pro)
NM_004656.4(BAP1):c.1188TGA[1] (p.Asp397del)
NM_004656.4(BAP1):c.1191T>G (p.Asp397Glu) rs1273468859
NM_004656.4(BAP1):c.1201_1203delinsGAG (p.Tyr401Glu) rs1553645128
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004656.4(BAP1):c.1202A>G (p.Tyr401Cys) rs1553645130
NM_004656.4(BAP1):c.1206G>T (p.Glu402Asp)
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala) rs535695655
NM_004656.4(BAP1):c.1225G>C (p.Val409Leu) rs756443059
NM_004656.4(BAP1):c.1235C>T (p.Thr412Ile) rs760363108
NM_004656.4(BAP1):c.1337A>C (p.Asn446Thr) rs751399960
NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser) rs751399960
NM_004656.4(BAP1):c.1379C>T (p.Ser460Leu) rs1553644949
NM_004656.4(BAP1):c.1389G>C (p.Leu463=) rs1064795208
NM_004656.4(BAP1):c.1393A>C (p.Ile465Leu)
NM_004656.4(BAP1):c.1395C>T (p.Ile465=) rs1578220985
NM_004656.4(BAP1):c.1442A>T (p.His481Leu) rs150441842
NM_004656.4(BAP1):c.1445C>T (p.Ser482Leu) rs753329341
NM_004656.4(BAP1):c.1450C>T (p.Pro484Ser) rs1705050172
NM_004656.4(BAP1):c.1501A>G (p.Ser501Gly) rs2153226684
NM_004656.4(BAP1):c.1533C>G (p.Ile511Met)
NM_004656.4(BAP1):c.1535G>T (p.Arg512Leu) rs778596308
NM_004656.4(BAP1):c.1549A>G (p.Thr517Ala) rs1449536422
NM_004656.4(BAP1):c.1550C>T (p.Thr517Met) rs764748646
NM_004656.4(BAP1):c.1581C>G (p.Ile527Met)
NM_004656.4(BAP1):c.15G>C (p.Trp5Cys) rs916069743
NM_004656.4(BAP1):c.162A>G (p.Glu54=) rs1553646029
NM_004656.4(BAP1):c.1630A>G (p.Ile544Val) rs1705040492
NM_004656.4(BAP1):c.1666G>A (p.Val556Ile)
NM_004656.4(BAP1):c.1705G>A (p.Val569Met) rs2153226580
NM_004656.4(BAP1):c.1740G>C (p.Lys580Asn) rs1438648758
NM_004656.4(BAP1):c.1763C>G (p.Pro588Arg) rs780338105
NM_004656.4(BAP1):c.176G>A (p.Arg59Gln) rs1298276806
NM_004656.4(BAP1):c.1778A>G (p.Gln593Arg) rs1553644733
NM_004656.4(BAP1):c.17T>C (p.Leu6Pro) rs2153228689
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.1806G>C (p.Glu602Asp) rs759423683
NM_004656.4(BAP1):c.1816G>A (p.Ala606Thr) rs2153226472
NM_004656.4(BAP1):c.1861C>A (p.Pro621Thr) rs866649101
NM_004656.4(BAP1):c.1868G>A (p.Ser623Asn) rs1207146972
NM_004656.4(BAP1):c.1883C>T (p.Ser628Leu) rs2153226434
NM_004656.4(BAP1):c.1908G>A (p.Leu636=) rs1217932827
NM_004656.4(BAP1):c.1928T>C (p.Ile643Thr) rs376519545
NM_004656.4(BAP1):c.1947C>T (p.Cys649=) rs1041287605
NM_004656.4(BAP1):c.1951A>C (p.Lys651Gln)
NM_004656.4(BAP1):c.1984-13_1984-3del rs1064795528
NM_004656.4(BAP1):c.2057-10C>T
NM_004656.4(BAP1):c.2057-3C>G
NM_004656.4(BAP1):c.2080C>T (p.Gln694Ter)
NM_004656.4(BAP1):c.2098C>T (p.Arg700Trp)
NM_004656.4(BAP1):c.209C>A (p.Ser70Tyr) rs1705236699
NM_004656.4(BAP1):c.2102G>A (p.Arg701His) rs1704985467
NM_004656.4(BAP1):c.211G>A (p.Val71Met) rs753629908
NM_004656.4(BAP1):c.2149C>G (p.Arg717Gly) rs1451498951
NM_004656.4(BAP1):c.2180A>G (p.Lys727Arg)
NM_004656.4(BAP1):c.230T>C (p.Val77Ala)
NM_004656.4(BAP1):c.238A>G (p.Met80Val) rs1705235473
NM_004656.4(BAP1):c.240G>T (p.Met80Ile) rs755878197
NM_004656.4(BAP1):c.281A>G (p.His94Arg) rs1553645950
NM_004656.4(BAP1):c.293G>C (p.Ser98Thr) rs2153228126
NM_004656.4(BAP1):c.310A>C (p.Ser104Arg) rs2153228112
NM_004656.4(BAP1):c.323T>A (p.Leu108Gln) rs2153228105
NM_004656.4(BAP1):c.338G>A (p.Ser113Asn) rs1705220109
NM_004656.4(BAP1):c.352_357del (p.Phe118_Thr119del)
NM_004656.4(BAP1):c.376-7C>G rs2153227983
NM_004656.4(BAP1):c.442G>A (p.Glu148Lys) rs1705197628
NM_004656.4(BAP1):c.448C>T (p.Arg150Cys) rs548946316
NM_004656.4(BAP1):c.454C>T (p.Leu152Phe) rs887658889
NM_004656.4(BAP1):c.455T>C (p.Leu152Pro)
NM_004656.4(BAP1):c.457C>T (p.Pro153Ser)
NM_004656.4(BAP1):c.488G>A (p.Arg163Gln) rs1268089896
NM_004656.4(BAP1):c.506A>G (p.His169Arg) rs2153227828
NM_004656.4(BAP1):c.55G>A (p.Val19Met) rs745359087
NM_004656.4(BAP1):c.560A>G (p.Lys187Arg)
NM_004656.4(BAP1):c.578A>G (p.His193Arg) rs1553645788
NM_004656.4(BAP1):c.586_588delinsGGT (p.Trp196Gly)
NM_004656.4(BAP1):c.589G>A (p.Gly197Arg) rs1060503739
NM_004656.4(BAP1):c.5A>G (p.Asn2Ser) rs2153228692
NM_004656.4(BAP1):c.622C>T (p.Arg208Trp) rs1705177686
NM_004656.4(BAP1):c.626T>C (p.Val209Ala) rs878854740
NM_004656.4(BAP1):c.628A>G (p.Ile210Val) rs1705177017
NM_004656.4(BAP1):c.637C>T (p.Arg213Cys)
NM_004656.4(BAP1):c.643G>A (p.Gly215Ser) rs1407261660
NM_004656.4(BAP1):c.67G>A (p.Gly23Ser) rs1578230869
NM_004656.4(BAP1):c.714G>C (p.Arg238Ser) rs1340520481
NM_004656.4(BAP1):c.71T>G (p.Val24Gly) rs2153228554
NM_004656.4(BAP1):c.721T>C (p.Tyr241His) rs1559589745
NM_004656.4(BAP1):c.739G>A (p.Val247Met) rs1197753868
NM_004656.4(BAP1):c.781C>G (p.Gln261Glu)
NM_004656.4(BAP1):c.783+4_783+13del rs876661262
NM_004656.4(BAP1):c.787A>C (p.Ile263Leu) rs370841382
NM_004656.4(BAP1):c.829C>A (p.Gln277Lys) rs770127999
NM_004656.4(BAP1):c.857A>C (p.Lys286Thr) rs2153227244
NM_004656.4(BAP1):c.877C>T (p.Pro293Ser) rs2153227235
NM_004656.4(BAP1):c.908C>T (p.Ala303Val) rs753460994
NM_004656.4(BAP1):c.934G>A (p.Gly312Ser) rs1705114996
NM_004656.4(BAP1):c.937G>A (p.Ala313Thr) rs1578223547
NM_004656.4(BAP1):c.961G>A (p.Ala321Thr) rs143891879

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