ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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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_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
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_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.*709G>C rs56339743 0.03348
NM_002230.4(JUP):c.*286C>T rs73983656 0.03337
NM_024334.3(TMEM43):c.*277C>T rs11943 0.03059
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
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.273+10C>T rs56148603 0.02451
NM_004415.4(DSP):c.*276_*278del rs144440643 0.01744
NM_002230.4(JUP):c.*669C>T rs8074883 0.01622
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_002230.4(JUP):c.*853C>T rs55919561 0.01530
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_002230.4(JUP):c.*623G>A rs55634776 0.01451
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_024422.6(DSC2):c.-298C>T rs149977713 0.01170
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001035.3(RYR2):c.*1160A>G rs114925843 0.01131
NM_024422.6(DSC2):c.*1604A>G rs188072930 0.01130
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01099
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
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.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001035.3(RYR2):c.*787C>A rs143228973 0.00997
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
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_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_001943.5(DSG2):c.*677T>C rs113622947 0.00882
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
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_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001943.5(DSG2):c.*1844A>G rs16962096 0.00700
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_024422.6(DSC2):c.*1283A>G rs141273986 0.00682
NM_001005242.3(PKP2):c.*48dup rs369140281 0.00677
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_002230.4(JUP):c.*1027G>C rs147905567 0.00640
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_001943.5(DSG2):c.*1385C>T rs116439025 0.00624
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_001035.3(RYR2):c.*130G>A rs12725752 0.00614
NM_001943.4(DSG2):c.-94G>C rs149048465 0.00607
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001005242.3(PKP2):c.*646G>A rs144983891 0.00577
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_002230.4(JUP):c.*239G>A rs115919416 0.00526
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_001005242.3(PKP2):c.*281A>G rs78540632 0.00463
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_004572.3(PKP2):c.-90G>T rs552373947 0.00300
NM_001943.5(DSG2):c.*705G>A rs57112788 0.00298
NM_024422.6(DSC2):c.*46A>T rs77431927 0.00294
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
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_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001943.5(DSG2):c.*1674G>A rs115630812 0.00261
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_024422.6(DSC2):c.*1475G>C rs180728052 0.00248
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001005242.3(PKP2):c.*1394A>T rs112547924 0.00232
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001943.5(DSG2):c.*504A>G rs139121154 0.00229
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001005242.3(PKP2):c.*683T>C rs144110140 0.00224
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
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_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
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_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
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_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_001035.3(RYR2):c.*980T>C rs147077947 0.00054
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_001035.3(RYR2):c.*399A>G rs184537159 0.00035
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.*55T>C rs192720264 0.00027
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_001035.3(RYR2):c.*1108A>G rs540171235 0.00026
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_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001035.3(RYR2):c.577-14G>A rs148019277 0.00021
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586 0.00020
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_001005242.3(PKP2):c.1379-2068C>T rs377424658 0.00016
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001005242.3(PKP2):c.1379-2066C>T rs373399921 0.00014
NM_004415.3(DSP):c.-281C>T rs547069600 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001943.5(DSG2):c.*1071T>C rs183684674 0.00012
NM_001943.5(DSG2):c.*1596T>C rs549396103 0.00012
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_001005242.3(PKP2):c.*303A>G rs148693924 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_001035.3(RYR2):c.3598+13T>C rs145104355 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001035.3(RYR2):c.*218T>G rs373132792 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001943.5(DSG2):c.*1471T>C rs574977992 0.00002
NM_001943.5(DSG2):c.*238T>G rs555035341 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
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.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
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.*137A>G rs78190086
NM_024422.6(DSC2):c.*764del rs796836744
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783

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