ClinVar Miner

List of variants studied for catecholaminergic polymorphic ventricular tachycardia 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 318
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001232.3(CASQ2):c.-234C>A rs553316024 0.00067
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_006073.4(TRDN):c.611-19A>T rs142018848 0.00044
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_001035.3(RYR2):c.1292+19G>A rs368198276 0.00030
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001232.4(CASQ2):c.*929C>T rs547458797 0.00019
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_001232.3(CASQ2):c.-225G>A rs535999427 0.00011
NM_006073.4(TRDN):c.23-19T>G rs370102595 0.00011
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919 0.00010
NM_001035.3(RYR2):c.8590+4A>G rs778964264 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala) rs539021736 0.00009
NM_001232.4(CASQ2):c.*457C>T rs375002557 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) rs767258350 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr) rs368974917 0.00006
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys) rs727504134 0.00006
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868 0.00006
NM_006073.4(TRDN):c.1975+8C>T rs754046696 0.00006
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr) rs375095599 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895 0.00004
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470 0.00004
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) rs758453646 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln) rs903232857 0.00004
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala) rs1057512489 0.00004
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn) rs372569289 0.00004
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala) rs1005458283 0.00004
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) rs1006109370 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_006073.4(TRDN):c.1136-1G>A rs769776218 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) rs763851599 0.00004
NM_001035.3(RYR2):c.1024G>A (p.Val342Met) rs371898166 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.2617G>A (p.Val873Met) rs369248015 0.00003
NM_001035.3(RYR2):c.294+3A>G rs1321804058 0.00003
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln) rs1172697175 0.00003
NM_001035.3(RYR2):c.3214+7T>G rs748941127 0.00003
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu) rs1019112544 0.00003
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile) rs762899950 0.00003
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met) rs377136047 0.00003
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His) rs753179691 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) rs768303943 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys) rs773252606 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=) rs368634803 0.00002
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala) rs755148895 0.00002
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu) rs759830423 0.00002
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) rs1386632671 0.00002
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly) rs748492817 0.00002
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys) rs754181384 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu) rs962100875 0.00002
NM_001035.3(RYR2):c.4161-5T>C rs1416816823 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys) rs749184443 0.00002
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys) rs1224597817 0.00002
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val) rs780681855 0.00002
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr) rs142498105 0.00002
NM_001035.3(RYR2):c.782A>G (p.His261Arg) rs577416427 0.00002
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=) rs751520306 0.00002
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val) rs981753891 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn) rs1060500168 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) rs367564871 0.00002
NM_006073.4(TRDN):c.1975+5G>T rs899940538 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.931+10T>A rs754118635 0.00002
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His) rs1229045575 0.00001
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) rs747138259 0.00001
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) rs375947003 0.00001
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro) rs894881755 0.00001
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp) rs876661020 0.00001
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser) rs766499417 0.00001
NM_001035.3(RYR2):c.1115T>A (p.Leu372His) rs763658621 0.00001
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg) rs397516506 0.00001
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe) rs1430332496 0.00001
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile) rs1210103464 0.00001
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp) rs1172947190 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) rs1178157004 0.00001
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) rs371396204 0.00001
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) rs769146715 0.00001
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg) rs1361307283 0.00001
NM_001035.3(RYR2):c.1320G>A (p.Ala440=) rs887478410 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val) rs775428443 0.00001
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) rs778498741 0.00001
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=) rs1268914442 0.00001
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742 0.00001
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) rs1479892874 0.00001
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln) rs765389300 0.00001
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn) rs777414943 0.00001
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg) rs376243998 0.00001
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr) rs780965490 0.00001
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg) rs1227019047 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln) rs754812132 0.00001
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu) rs1404965456 0.00001
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met) rs779146564 0.00001
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) rs774797663 0.00001
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265 0.00001
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met) rs752107643 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu) rs769163639 0.00001
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys) rs764144130 0.00001
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys) rs1353376223 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser) rs760731968 0.00001
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=) rs758277755 0.00001
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu) rs368669045 0.00001
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His) rs551362343 0.00001
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu) rs1158268722 0.00001
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350 0.00001
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr) rs1057524513 0.00001
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn) rs1558114884 0.00001
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) rs934248102 0.00001
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val) rs772541555 0.00001
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp) rs776908944 0.00001
NM_001035.3(RYR2):c.808C>T (p.His270Tyr) rs745558219 0.00001
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu) rs956317332 0.00001
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile) rs1688441480 0.00001
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr) rs1472732790 0.00001
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val) rs773957909 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) rs794728766 0.00001
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln) rs1558793119 0.00001
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) rs886045160 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn) rs745563456 0.00001
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) rs371336992 0.00001
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) rs1297242196 0.00001
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) rs947096255 0.00001
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) rs374035597 0.00001
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) rs371717903 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys) rs545032318 0.00001
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) rs1335196025 0.00001
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr) rs1689900582
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly) rs2149142608
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) rs1692948853
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile) rs80313920
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys) rs1298823746
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr) rs1060500135
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter) rs570414987
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr) rs1658553532
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met) rs1235379196
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg) rs886039213
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn) rs1558439258
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala) rs1659493419
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val) rs2149404631
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs) rs749201569
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr) rs2102968070
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys) rs373502556
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala) rs1658861680
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu) rs564957172
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr) rs1664091907
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val) rs768063536
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn) rs774486571
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) rs794728698
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val) rs773162223
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys) rs879255350
NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp) rs2148252443
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu) rs779640835
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu) rs763881346
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=) rs780861754
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr) rs747297455
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala) rs1553514981
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn) rs1553515422
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro) rs794728734
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val) rs769163639
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu) rs1298609322
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4910+3C>G rs757198624
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val) rs1678240011
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr) rs1168483242
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala) rs41315858
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys) rs754811291
NM_001035.3(RYR2):c.596G>T (p.Gly199Val) rs754911836
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val) rs2148667315
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) rs375371340
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala) rs1681171235
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala) rs747787121
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val) rs1218556750
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) rs1399536009
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter) rs2150028964
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys) rs2148878470
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile) rs748858246
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu) rs1014875855
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) rs1159691201
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) rs2114402336
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs) rs778198100
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) rs202219343
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.233-14_233-13del rs66509682
NM_006073.4(TRDN):c.391+1G>A rs2114436209
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.