ClinVar Miner

List of variants reported as likely benign for Arrhythmogenic right ventricular cardiomyopathy by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 54
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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_024334.3(TMEM43):c.*1160A>G rs9842062 0.01099
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
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_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
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_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_004415.3(DSP):c.-281C>T rs547069600 0.00014
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
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_001005242.3(PKP2):c.*1199del rs11476598
NM_001005242.3(PKP2):c.*1311del rs3833501
NM_001005242.3(PKP2):c.*578_*583dup rs137947383
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_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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