ClinVar Miner

List of variants in gene combination LOC126806068, RYR2 reported as uncertain significance for Cardiomyopathy

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00006
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr) rs773441342 0.00006
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His) rs190009333 0.00005
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470 0.00004
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu) rs766109950 0.00004
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn) rs934659622 0.00004
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys) rs753433827 0.00003
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) rs758453646 0.00003
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val) rs765238394 0.00002
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) rs1386632671 0.00002
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His) rs764202302 0.00001
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val) rs1199657338 0.00001
NM_001035.3(RYR2):c.12416T>C (p.Met4139Thr) rs753994246 0.00001
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln) rs750908017 0.00001
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg) rs1450189858 0.00001
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp) rs1695374375 0.00001
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp) rs1323430299 0.00001
NM_001035.3(RYR2):c.12684G>T (p.Glu4228Asp) rs776421571 0.00001
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu) rs1321340277 0.00001
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr) rs773317989 0.00001
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) rs371396204 0.00001
NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val) rs754921908 0.00001
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala) rs984942880 0.00001
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) rs769146715 0.00001
NM_001035.3(RYR2):c.12958G>A (p.Glu4320Lys) rs1409819668 0.00001
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg) rs1361307283 0.00001
NM_001035.3(RYR2):c.13070C>T (p.Ala4357Val) rs1695412913 0.00001
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe) rs982384666 0.00001
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro) rs762239413 0.00001
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn) rs372880584 0.00001
NM_001035.3(RYR2):c.13103A>G (p.Glu4368Gly) rs1483523927 0.00001
NM_001035.3(RYR2):c.13112A>G (p.Glu4371Gly) rs1695416603 0.00001
NM_001035.3(RYR2):c.13160A>G (p.Glu4387Gly) rs1190034895 0.00001
NM_001035.3(RYR2):c.13213C>T (p.Leu4405Phe) rs568257273 0.00001
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu) rs1328615953 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.12430C>T (p.Arg4144Cys) rs1298823746
NM_001035.3(RYR2):c.12481G>A (p.Glu4161Lys) rs1695361671
NM_001035.3(RYR2):c.12510A>T (p.Arg4170Ser) rs1695363889
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.12548A>T (p.Lys4183Ile) rs1695367132
NM_001035.3(RYR2):c.12572dup (p.Asn4191fs) rs2527787221
NM_001035.3(RYR2):c.12636C>A (p.Asn4212Lys) rs1041564863
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys) rs1695373966
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys) rs1417926762
NM_001035.3(RYR2):c.12663C>A (p.Ser4221Arg) rs370297602
NM_001035.3(RYR2):c.12663C>G (p.Ser4221Arg) rs370297602
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.12672G>C (p.Glu4224Asp) rs746898186
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys) rs1223110750
NM_001035.3(RYR2):c.12676C>T (p.Pro4226Ser) rs1293881648
NM_001035.3(RYR2):c.12677C>T (p.Pro4226Leu) rs1324957330
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp) rs1695385129
NM_001035.3(RYR2):c.12751A>G (p.Asn4251Asp) rs764955292
NM_001035.3(RYR2):c.12767T>G (p.Met4256Arg) rs530277653
NM_001035.3(RYR2):c.12778A>G (p.Ser4260Gly) rs1416980159
NM_001035.3(RYR2):c.12826G>T (p.Val4276Leu) rs368599791
NM_001035.3(RYR2):c.12846CTT[1] (p.Phe4284del) rs1695394603
NM_001035.3(RYR2):c.12875T>C (p.Met4292Thr) rs1695396981
NM_001035.3(RYR2):c.12876G>T (p.Met4292Ile) rs1434067914
NM_001035.3(RYR2):c.12899G>A (p.Ser4300Asn) rs998814994
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile) rs772007722
NM_001035.3(RYR2):c.12922A>T (p.Ile4308Phe) rs1254110305
NM_001035.3(RYR2):c.12929G>C (p.Cys4310Ser) rs1695402383
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg) rs2149355805
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
NM_001035.3(RYR2):c.13003C>A (p.Pro4335Thr) rs768583251
NM_001035.3(RYR2):c.13034A>T (p.Asp4345Val) rs1695410103
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp) rs559197657
NM_001035.3(RYR2):c.13046G>A (p.Gly4349Glu) rs1695410973
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly) rs2527798012
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val) rs981875785
NM_001035.3(RYR2):c.13078T>C (p.Ser4360Pro) rs1420181587
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala) rs1420181587
NM_001035.3(RYR2):c.13101G>T (p.Lys4367Asn) rs2527799411
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001035.3(RYR2):c.13162GGA[1] (p.Gly4389del) rs1695419973
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg) rs763987225
NM_001035.3(RYR2):c.13193C>A (p.Pro4398Gln) rs2527801096
NM_001035.3(RYR2):c.13216A>C (p.Met4406Leu) rs1328615953
NM_001035.3(RYR2):c.13228G>C (p.Val4410Leu) rs1695426245
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala) rs748604898
NM_001035.3(RYR2):c.13255T>A (p.Phe4419Ile) rs866127660

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