List of variants reported as uncertain significance for Arrhythmogenic right ventricular dysplasia 8

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 163

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.1dup (p.Met1fs)	rs17133512	0.17362
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)	rs41302885	0.00290
NM_004415.4(DSP):c.1206G>A (p.Lys402=)	rs150422458	0.00185
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)	rs149070106	0.00139
NM_004415.4(DSP):c.2346C>T (p.Asp782=)	rs139071827	0.00126
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00094
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)	rs148478829	0.00073
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.5167G>C (p.Glu1723Gln)	rs142803672	0.00041
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)	rs147315869	0.00038
NM_004415.4(DSP):c.273+5G>A	rs200473206	0.00031
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.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.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.3146C>T (p.Ser1049Leu)	rs751361395	0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)	rs149513743	0.00010
NM_004415.4(DSP):c.*58T>C	rs753281894	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.5827A>G (p.Arg1943Gly)	rs140663822	0.00003
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)	rs397516949	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.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.4671G>A (p.Thr1557=)	rs367767551	0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)	rs1394590334	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.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.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.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.1379C>T (p.Pro460Leu)	rs757300149
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr)	rs1554106853
NM_004415.4(DSP):c.170+2341A>G
NM_004415.4(DSP):c.1848G>A (p.Gln616=)	rs1215425090
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.2582C>T (p.Thr861Ile)	rs1759210367
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.3389A>G (p.Asp1130Gly)	rs886061746
NM_004415.4(DSP):c.3416A>G (p.Tyr1139Cys)
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)	rs759288257
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.3770A>G (p.Asn1257Ser)	rs1561697968
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)	rs569786610
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)	rs1554108296
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
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.5327A>G (p.Glu1776Gly)	rs1363204936
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)	rs778745098
NM_004415.4(DSP):c.5504A>C (p.Glu1835Ala)
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)	rs727503004
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)	rs780274878
NM_004415.4(DSP):c.6280A>G (p.Thr2094Ala)
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala)	rs1759528776
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)	rs768837509
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.7394G>C (p.Arg2465Thr)
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)	rs397516957
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)	rs199597935
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.913A>G (p.Ile305Val)	rs17604693
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)

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