ClinVar Miner

List of variants reported as likely benign for Arrhythmogenic right ventricular cardiomyopathy

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004572.3(PKP2):c.-116C>T rs187291890 0.48955
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_024334.3(TMEM43):c.*779A>C rs13069 0.19544
NM_024334.3(TMEM43):c.*1424T>C rs10468 0.19535
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_024334.3(TMEM43):c.*1374T>C rs8516 0.16859
NM_024334.3(TMEM43):c.*463A>G rs1043953 0.15711
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.05531
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NM_024334.3(TMEM43):c.*277C>T rs11943 0.03059
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_024334.3(TMEM43):c.*924T>C rs79741000 0.02523
NM_024334.3(TMEM43):c.*217G>A rs116757981 0.02517
NM_004415.4(DSP):c.*276_*278del rs144440643 0.01744
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01099
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_002471.4(MYH6):c.3979-2A>C rs1158854454 0.00172
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) rs200875379 0.00105
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
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_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367 0.00060
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn) rs765517955 0.00016
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_004415.3(DSP):c.-281C>T rs547069600 0.00014
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn) rs759284746 0.00002
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_001005242.3(PKP2):c.*1199del rs11476598
NM_001005242.3(PKP2):c.*1311del rs3833501
NM_001005242.3(PKP2):c.*578_*583dup rs137947383
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001035.3(RYR2):c.*646del rs377407067
NM_001035.3(RYR2):c.*890_*893dup rs10667874
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001943.5(DSG2):c.*1714_*1715dup rs10645928
NM_001943.5(DSG2):c.*601TG[7] rs36022761
NM_001943.5(DSG2):c.*944dup rs368604939
NM_001943.5(DSG2):c.*960dup rs200149790
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg) rs1420924484
NM_004628.5(XPC):c.*397_*400del rs3731180
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582
NM_024422.6(DSC2):c.*764del rs796836744
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783

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