ClinVar Miner

List of variants in gene combination LOC126806068, RYR2 reported as likely benign for heart conduction disease

Included ClinVar conditions (98):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00031
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.13069G>A (p.Ala4357Thr) rs747622318 0.00009
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=) rs369964660 0.00008
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=) rs397516509 0.00006
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr) rs773441342 0.00006
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.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His) rs190009333 0.00004
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105 0.00003
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=) rs559197657 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.12552G>A (p.Glu4184=) rs1300867476 0.00002
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=) rs369532267 0.00002
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=) rs781557399 0.00002
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) rs1386632671 0.00002
NM_001035.3(RYR2):c.12957C>T (p.Val4319=) rs727504438 0.00002
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp) rs764884250 0.00002
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=) rs954641240 0.00001
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=) rs751897207 0.00001
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=) rs777321777 0.00001
NM_001035.3(RYR2):c.12549A>G (p.Lys4183=) rs760519665 0.00001
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=) rs969138992 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) rs1178157004 0.00001
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp) rs1323430299 0.00001
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=) rs748387463 0.00001
NM_001035.3(RYR2):c.12715C>T (p.Leu4239=) rs766396305 0.00001
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=) rs774851947 0.00001
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser) rs750064223 0.00001
NM_001035.3(RYR2):c.12786G>A (p.Lys4262=) rs374332015 0.00001
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=) rs1265667422 0.00001
NM_001035.3(RYR2):c.12912C>G (p.Gly4304=) rs1245462519 0.00001
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) rs769146715 0.00001
NM_001035.3(RYR2):c.12927T>A (p.Ile4309=) rs777132279 0.00001
NM_001035.3(RYR2):c.12954C>T (p.Leu4318=) rs1055906213 0.00001
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=) rs1456795811 0.00001
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=) rs1327823442 0.00001
NM_001035.3(RYR2):c.13068C>T (p.Ala4356=) rs779932052 0.00001
NM_001035.3(RYR2):c.13212C>T (p.Asp4404=) rs758548582 0.00001
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430 0.00001
NM_001035.3(RYR2):c.13245G>A (p.Val4415=) rs1695427951 0.00001
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu) rs1029442866 0.00001
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=) rs2149353678
NM_001035.3(RYR2):c.12405C>T (p.Arg4135=) rs2149353701
NM_001035.3(RYR2):c.12408C>T (p.Ile4136=) rs1294331175
NM_001035.3(RYR2):c.12423C>T (p.Ser4141=)
NM_001035.3(RYR2):c.12426C>G (p.Ala4142=)
NM_001035.3(RYR2):c.12426C>T (p.Ala4142=) rs1573934435
NM_001035.3(RYR2):c.12447T>C (p.Tyr4149=) rs2149353878
NM_001035.3(RYR2):c.12456C>T (p.Ile4152=)
NM_001035.3(RYR2):c.12468C>T (p.Ser4156=)
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=) rs1347472531
NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)
NM_001035.3(RYR2):c.12588C>T (p.Thr4196=)
NM_001035.3(RYR2):c.12606G>A (p.Leu4202=) rs2149354452
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)
NM_001035.3(RYR2):c.12636C>T (p.Asn4212=)
NM_001035.3(RYR2):c.12647C>T (p.Ala4216Val)
NM_001035.3(RYR2):c.12660A>G (p.Glu4220=) rs1323430299
NM_001035.3(RYR2):c.12666G>A (p.Glu4222=) rs1573935771
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=)
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=) rs768348987
NM_001035.3(RYR2):c.12687G>A (p.Gln4229=)
NM_001035.3(RYR2):c.12708C>T (p.Phe4236=) rs2149354917
NM_001035.3(RYR2):c.12711C>T (p.Ser4237=) rs1412516019
NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)
NM_001035.3(RYR2):c.12735G>A (p.Leu4245=)
NM_001035.3(RYR2):c.12741G>A (p.Ala4247=) rs753089069
NM_001035.3(RYR2):c.12750C>T (p.Tyr4250=) rs2149355086
NM_001035.3(RYR2):c.12753T>C (p.Asn4251=)
NM_001035.3(RYR2):c.12759G>A (p.Leu4253=) rs2149355131
NM_001035.3(RYR2):c.12777C>T (p.Leu4259=)
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=)
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=) rs749454470
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=) rs1695389411
NM_001035.3(RYR2):c.12800A>G (p.Gln4267Arg)
NM_001035.3(RYR2):c.12801G>A (p.Gln4267=)
NM_001035.3(RYR2):c.12811G>A (p.Val4271Ile)
NM_001035.3(RYR2):c.12840C>A (p.Val4280=) rs1695393350
NM_001035.3(RYR2):c.12843G>T (p.Thr4281=)
NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val)
NM_001035.3(RYR2):c.12846C>G (p.Ala4282=)
NM_001035.3(RYR2):c.12861C>T (p.Tyr4287=)
NM_001035.3(RYR2):c.12883T>C (p.Leu4295=)
NM_001035.3(RYR2):c.12918C>T (p.Phe4306=) rs1558407346
NM_001035.3(RYR2):c.12934C>T (p.Leu4312=)
NM_001035.3(RYR2):c.12936G>A (p.Leu4312=) rs2149355823
NM_001035.3(RYR2):c.12939G>C (p.Leu4313=) rs893697261
NM_001035.3(RYR2):c.12963T>C (p.Gly4321=)
NM_001035.3(RYR2):c.12966T>A (p.Ala4322=)
NM_001035.3(RYR2):c.12990G>C (p.Leu4330=)
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=) rs1558407591
NM_001035.3(RYR2):c.13023G>A (p.Glu4341=) rs2149356131
NM_001035.3(RYR2):c.13035T>C (p.Asp4345=) rs746030676
NM_001035.3(RYR2):c.13047A>G (p.Gly4349=) rs2149356229
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=) rs1695412040
NM_001035.3(RYR2):c.13072C>T (p.Leu4358=)
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=) rs1695413897
NM_001035.3(RYR2):c.13080C>G (p.Ser4360=) rs369964660
NM_001035.3(RYR2):c.13092C>T (p.Thr4364=)
NM_001035.3(RYR2):c.13098A>G (p.Leu4366=) rs2149356435
NM_001035.3(RYR2):c.13101G>A (p.Lys4367=)
NM_001035.3(RYR2):c.13107G>A (p.Leu4369=) rs1573937954
NM_001035.3(RYR2):c.13131G>A (p.Ser4377=)
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=)
NM_001035.3(RYR2):c.13156A>C (p.Arg4386=)
NM_001035.3(RYR2):c.13167A>G (p.Gly4389=) rs878854152
NM_001035.3(RYR2):c.13173C>T (p.Tyr4391=)
NM_001035.3(RYR2):c.13209T>C (p.Ser4403=)
NM_001035.3(RYR2):c.13233C>T (p.Pro4411=) rs770195281
NM_001035.3(RYR2):c.13239T>C (p.Pro4413=)
NM_001035.3(RYR2):c.13260+10C>T rs1695431070
NM_001035.3(RYR2):c.13260+18C>T
NM_001035.3(RYR2):c.13260+19dup rs2149357145
NM_001035.3(RYR2):c.13260+3_13260+6dup rs1553323690

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