List of variants in gene combination LOC126806068, RYR2 reported as likely benign for Catecholaminergic polymorphic ventricular tachycardia 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
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.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.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.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.13252A>G (p.Lys4418Glu)	rs1029442866	0.00001
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)	rs2149353678
NM_001035.3(RYR2):c.12408C>T (p.Ile4136=)	rs1294331175
NM_001035.3(RYR2):c.12423C>T (p.Ser4141=)
NM_001035.3(RYR2):c.12447T>C (p.Tyr4149=)	rs2149353878
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.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.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.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.12966T>A (p.Ala4322=)
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.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.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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