ClinVar Miner

List of variants in gene RYR2 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
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_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.8590+4A>G rs778964264 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 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_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_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 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_001035.3(RYR2):c.11206G>A (p.Ala3736Thr) rs375095599 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895 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.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_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.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_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.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.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_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.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.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_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.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.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

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