ClinVar Miner

List of variants in gene DSP studied for Arrhythmogenic right ventricular dysplasia 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004415.4(DSP):c.*47T>C rs376397291 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004415.4(DSP):c.-157G>A rs886061742 0.00025
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004415.4(DSP):c.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_004415.4(DSP):c.*58T>C rs753281894 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.*577G>A rs886061755 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_004415.4(DSP):c.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.5899G>A (p.Val1967Met) rs397516949 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.*112A>G rs141059005 0.00001
NM_004415.4(DSP):c.*137T>C rs756543548 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1693A>G (p.Ile565Val) rs1287232143 0.00001
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr) rs1212756552 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr) rs534413559 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.1100G>A (p.Cys367Tyr)
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp) rs142129767
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu) rs757300149
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.170+2341A>G
NM_004415.4(DSP):c.1755dup (p.His586fs)
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.2124G>T (p.Glu708Asp) rs1759074309
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe) rs1759212430
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.274-3C>G rs794729638
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3110T>A (p.Leu1037Ter)
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3407del (p.Lys1136fs)
NM_004415.4(DSP):c.3416A>G (p.Tyr1139Cys)
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys)
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3725T>C (p.Leu1242Pro) rs1759365693
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
NM_004415.4(DSP):c.4476del (p.Glu1493fs)
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5114G>T (p.Arg1705Met) rs1554108448
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5504A>C (p.Glu1835Ala)
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg) rs780274878
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6280A>G (p.Thr2094Ala)
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala) rs1759528776
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7113_7119del (p.Ile2372fs)
NM_004415.4(DSP):c.718G>C (p.Ala240Pro) rs1758741133
NM_004415.4(DSP):c.71C>G (p.Pro24Arg) rs978383808
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
NM_004415.4(DSP):c.7394G>C (p.Arg2465Thr)
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter) rs146296069
NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter) rs1163244913
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)

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