ClinVar Miner

List of variants reported as uncertain significance for Arrhythmogenic right ventricular dysplasia 2

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ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.*509A>G rs565288028 0.00105
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 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.463+14G>A rs776302587 0.00042
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001035.3(RYR2):c.*399A>G rs184537159 0.00035
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.*1108A>G rs540171235 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.-63G>T rs578020342 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
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.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001035.3(RYR2):c.*1329C>G rs749767730 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_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001035.3(RYR2):c.*142C>T rs552725083 0.00015
NM_001035.3(RYR2):c.6022+5G>A rs376389213 0.00015
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) rs765283048 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708 0.00012
NM_001035.3(RYR2):c.*1152G>A rs551419848 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val) rs1394059438 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001035.3(RYR2):c.3598+13T>C rs145104355 0.00009
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572 0.00009
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001035.3(RYR2):c.*107G>A rs867864296 0.00008
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=) rs376057173 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001035.3(RYR2):c.*761G>A rs1034404143 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu) rs397516522 0.00006
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060 0.00006
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) rs757490010 0.00006
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.848+8G>C rs373075790 0.00006
NM_001035.3(RYR2):c.*566G>T rs886046293 0.00005
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419 0.00004
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11557+15G>A rs761490797 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile) rs748581317 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001035.3(RYR2):c.*338C>T rs879161531 0.00003
NM_001035.3(RYR2):c.*781T>A rs139272315 0.00003
NM_001035.3(RYR2):c.*946C>T rs762908336 0.00003
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) rs768711283 0.00003
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=) rs754610647 0.00003
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp) rs747404408 0.00003
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432 0.00003
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys) rs757350594 0.00003
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) rs773748242 0.00003
NM_001035.3(RYR2):c.837G>A (p.Thr279=) rs769682840 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) rs760379293 0.00003
NM_001035.3(RYR2):c.*472A>G rs1006941124 0.00002
NM_001035.3(RYR2):c.*869G>A rs886046303 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.1404G>A (p.Glu468=) rs768538183 0.00002
NM_001035.3(RYR2):c.1940G>A (p.Arg647His) rs766330093 0.00002
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=) rs1060503853 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001035.3(RYR2):c.*1131A>G rs1023948327 0.00001
NM_001035.3(RYR2):c.*1268G>A rs1231042485 0.00001
NM_001035.3(RYR2):c.*299C>G rs886046288 0.00001
NM_001035.3(RYR2):c.*988C>T rs898651416 0.00001
NM_001035.3(RYR2):c.-15A>G rs772056240 0.00001
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=) rs753175584 0.00001
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=) rs779316628 0.00001
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=) rs768797598 0.00001
NM_001035.3(RYR2):c.11040-3C>T rs876657984 0.00001
NM_001035.3(RYR2):c.11146-6G>A rs886046277 0.00001
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser) rs967116157 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His) rs764202302 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.13410C>T (p.Tyr4470=) rs183933829 0.00001
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=) rs886046279 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.13900G>A (p.Val4634Ile) rs756310498 0.00001
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly) rs749030677 0.00001
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213 0.00001
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=) rs758566439 0.00001
NM_001035.3(RYR2):c.1444C>T (p.Leu482=) rs117903753 0.00001
NM_001035.3(RYR2):c.14808+12A>C rs886046281 0.00001
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=) rs758813812 0.00001
NM_001035.3(RYR2):c.2223A>G (p.Val741=) rs117242563 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys) rs765102386 0.00001
NM_001035.3(RYR2):c.2808G>A (p.Ser936=) rs1057521205 0.00001
NM_001035.3(RYR2):c.3067-14G>C rs757471501 0.00001
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) rs747358776 0.00001
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) rs747447414 0.00001
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265 0.00001
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) rs762372863 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223 0.00001
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys) rs777557037 0.00001
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter) rs749930577 0.00001
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270 0.00001
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350 0.00001
NM_001035.3(RYR2):c.6688+13C>A rs1262322008 0.00001
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala) rs777279244 0.00001
NM_001035.3(RYR2):c.849-10T>C rs771173251 0.00001
NM_001035.3(RYR2):c.8493T>C (p.Val2831=) rs755660659 0.00001
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp) rs770278770 0.00001
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys) rs760965671 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_001035.3(RYR2):c.*379T>G rs886046291
NM_001035.3(RYR2):c.*711C>G rs544493822
NM_001035.3(RYR2):c.*712C>G rs886046300
NM_001035.3(RYR2):c.*713C>G rs886046301
NM_001035.3(RYR2):c.*717G>C rs867345276
NM_001035.3(RYR2):c.*723G>C rs1348404826
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp) rs1689344988
NM_001035.3(RYR2):c.10853A>G (p.Asn3618Ser) rs1690559112
NM_001035.3(RYR2):c.11091+11A>G rs1690899283
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=) rs553350678
NM_001035.3(RYR2):c.12712A>G (p.Ile4238Val) rs1695382742
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro) rs761272973
NM_001035.3(RYR2):c.14014A>T (p.Met4672Leu)
NM_001035.3(RYR2):c.14325T>C (p.Ala4775=) rs1660960345
NM_001035.3(RYR2):c.14692T>A (p.Phe4898Ile) rs886046280
NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)
NM_001035.3(RYR2):c.1612+10A>G rs886046262
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn) rs886046263
NM_001035.3(RYR2):c.1818A>C (p.Arg606Ser)
NM_001035.3(RYR2):c.1853G>T (p.Cys618Phe)
NM_001035.3(RYR2):c.1945G>T (p.Val649Leu) rs1663593146
NM_001035.3(RYR2):c.2117A>G (p.Tyr706Cys) rs1664107169
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu) rs754901791
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met) rs1670046069
NM_001035.3(RYR2):c.2964C>T (p.Leu988=) rs202085370
NM_001035.3(RYR2):c.3358C>T (p.Pro1120Ser) rs1331533259
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile) rs886046266
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.4382G>C (p.Arg1461Thr) rs1675476561
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser) rs114534505
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=) rs886046269
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser) rs886046261
NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)
NM_001035.3(RYR2):c.6216G>A (p.Glu2072=) rs886046271
NM_001035.3(RYR2):c.6689-3T>A rs886046272
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro) rs779289104
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met) rs1057522884
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=) rs1681182291
NM_001035.3(RYR2):c.7227T>C (p.Ile2409=) rs1681768739
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=) rs367994477
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala) rs1681783995
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val) rs886046273
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=) rs886046274
NM_001035.3(RYR2):c.7634T>C (p.Ile2545Thr) rs758415895
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) rs1683042825
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro) rs1573391679
NM_001035.3(RYR2):c.8508C>T (p.Asp2836=) rs757197730
NM_001035.3(RYR2):c.8759G>T (p.Arg2920Leu) rs756302327
NM_001035.3(RYR2):c.8960G>A (p.Ser2987Asn)
NM_001035.3(RYR2):c.9129-7T>C rs1466669135
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001035.3(RYR2):c.9877G>A (p.Gly3293Arg) rs886046275

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