ClinVar Miner

List of variants in gene LOC126806067, RYR2 studied for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583 0.00282
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=) rs372097270 0.00013
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) rs369982130 0.00011
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572 0.00009
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533 0.00008
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr) rs751419465 0.00006
NM_001035.3(RYR2):c.4143C>T (p.Pro1381=) rs762991553 0.00006
NM_001035.3(RYR2):c.4160+15C>T rs376097712 0.00005
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr) rs772551383 0.00004
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala) rs773678614 0.00004
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala) rs1005458283 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001035.3(RYR2):c.3808-10C>T rs779454549 0.00003
NM_001035.3(RYR2):c.3822C>T (p.Asp1274=) rs761365777 0.00003
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile) rs762899950 0.00003
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu) rs962100875 0.00002
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656 0.00002
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=) rs573948177 0.00002
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=) rs745839967 0.00002
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His) rs752124839 0.00002
NM_001035.3(RYR2):c.4160+16G>A rs587781142 0.00002
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001035.3(RYR2):c.3805G>C (p.Glu1269Gln) rs763766154 0.00001
NM_001035.3(RYR2):c.3807+20A>G rs1377676188 0.00001
NM_001035.3(RYR2):c.3808-17G>A rs374061574 0.00001
NM_001035.3(RYR2):c.3808-18C>T rs996356470 0.00001
NM_001035.3(RYR2):c.3808-20A>G rs1420964292 0.00001
NM_001035.3(RYR2):c.3808-9G>A rs557880129 0.00001
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223 0.00001
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe) rs759424061 0.00001
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg) rs1057518304 0.00001
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile) rs746350036 0.00001
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu) rs1383564773 0.00001
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu) rs769384124 0.00001
NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr) rs772739688 0.00001
NM_001035.3(RYR2):c.3910C>T (p.Leu1304=) rs555317545 0.00001
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu) rs1412253468 0.00001
NM_001035.3(RYR2):c.3924C>T (p.Ile1308=) rs761010650 0.00001
NM_001035.3(RYR2):c.3930C>T (p.Cys1310=) rs764454542 0.00001
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr) rs368635274 0.00001
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val) rs757471928 0.00001
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met) rs752107643 0.00001
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr) rs376526841 0.00001
NM_001035.3(RYR2):c.3958G>A (p.Gly1320Arg) rs1264658238 0.00001
NM_001035.3(RYR2):c.3964C>T (p.Leu1322Phe) rs770433289 0.00001
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro) rs1043523829 0.00001
NM_001035.3(RYR2):c.3987G>A (p.Gly1329=) rs775470259 0.00001
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) rs765369749 0.00001
NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu) rs1040456396 0.00001
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn) rs1274140033 0.00001
NM_001035.3(RYR2):c.4095T>G (p.Ala1365=) rs376401462 0.00001
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn) rs531412940 0.00001
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg) rs1675089718 0.00001
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.3768T>A (p.Pro1256=)
NM_001035.3(RYR2):c.3771G>A (p.Gln1257=)
NM_001035.3(RYR2):c.3794A>G (p.His1265Arg) rs1674968448
NM_001035.3(RYR2):c.3795T>C (p.His1265=) rs2148431580
NM_001035.3(RYR2):c.3800A>G (p.His1267Arg)
NM_001035.3(RYR2):c.3800A>T (p.His1267Leu)
NM_001035.3(RYR2):c.3802A>G (p.Ile1268Val)
NM_001035.3(RYR2):c.3807+19A>T
NM_001035.3(RYR2):c.3808-10C>G
NM_001035.3(RYR2):c.3808-15T>C
NM_001035.3(RYR2):c.3808-16C>A
NM_001035.3(RYR2):c.3808-16C>T
NM_001035.3(RYR2):c.3808-4C>T rs1675049564
NM_001035.3(RYR2):c.3808-5G>C rs776405427
NM_001035.3(RYR2):c.3812C>T (p.Thr1271Ile)
NM_001035.3(RYR2):c.3823G>T (p.Gly1275Cys)
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=) rs1553514916
NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro) rs1208920889
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) rs759424061
NM_001035.3(RYR2):c.3840C>A (p.Ser1280=) rs752970338
NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)
NM_001035.3(RYR2):c.3841C>G (p.Pro1281Ala) rs2148436643
NM_001035.3(RYR2):c.3855C>G (p.Val1285=)
NM_001035.3(RYR2):c.3858T>C (p.Thr1286=)
NM_001035.3(RYR2):c.3864G>A (p.Lys1288=)
NM_001035.3(RYR2):c.3872G>C (p.Gly1291Ala)
NM_001035.3(RYR2):c.3890C>G (p.Thr1297Ser) rs746350036
NM_001035.3(RYR2):c.3894T>C (p.Asp1298=)
NM_001035.3(RYR2):c.3896T>G (p.Ile1299Ser) rs772551383
NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met) rs747846327
NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
NM_001035.3(RYR2):c.3905A>T (p.Tyr1302Phe) rs2148437157
NM_001035.3(RYR2):c.3906T>C (p.Tyr1302=)
NM_001035.3(RYR2):c.3908G>A (p.Arg1303His) rs766670579
NM_001035.3(RYR2):c.3912G>T (p.Leu1304=)
NM_001035.3(RYR2):c.3916A>G (p.Met1306Val) rs767360469
NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu) rs1675067457
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala) rs1553514981
NM_001035.3(RYR2):c.3952G>C (p.Val1318Leu) rs1675068916
NM_001035.3(RYR2):c.3961G>A (p.Gly1321Arg) rs2148437710
NM_001035.3(RYR2):c.3964C>G (p.Leu1322Val)
NM_001035.3(RYR2):c.3966C>G (p.Leu1322=) rs1235181059
NM_001035.3(RYR2):c.3971G>A (p.Gly1324Glu)
NM_001035.3(RYR2):c.3975T>C (p.Ala1325=)
NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp) rs1675072837
NM_001035.3(RYR2):c.3978C>T (p.Gly1326=) rs745839967
NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro) rs923667966
NM_001035.3(RYR2):c.3988C>T (p.Pro1330Ser) rs1675074576
NM_001035.3(RYR2):c.3993G>C (p.Lys1331Asn)
NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
NM_001035.3(RYR2):c.4012G>A (p.Asp1338Asn)
NM_001035.3(RYR2):c.4013A>T (p.Asp1338Val)
NM_001035.3(RYR2):c.4022C>T (p.Ser1341Phe)
NM_001035.3(RYR2):c.4022_4023del (p.Asp1340_Ser1341insTer)
NM_001035.3(RYR2):c.4035T>G (p.Val1345=)
NM_001035.3(RYR2):c.4053T>C (p.His1351=)
NM_001035.3(RYR2):c.4059T>C (p.His1353=)
NM_001035.3(RYR2):c.4068C>A (p.Pro1356=) rs199821105
NM_001035.3(RYR2):c.4068C>G (p.Pro1356=)
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn) rs193922626
NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys) rs771593145
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His) rs1675084862
NM_001035.3(RYR2):c.4080CAAAGA[1] (p.1360DK[1])
NM_001035.3(RYR2):c.4089A>G (p.Lys1363=)
NM_001035.3(RYR2):c.4095T>C (p.Ala1365=)
NM_001035.3(RYR2):c.4102C>G (p.Pro1368Ala)
NM_001035.3(RYR2):c.4102C>T (p.Pro1368Ser) rs1675088114
NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser) rs1675088358
NM_001035.3(RYR2):c.4110T>A (p.Phe1370Leu)
NM_001035.3(RYR2):c.4114A>C (p.Asn1372His)
NM_001035.3(RYR2):c.4121A>T (p.Lys1374Ile)
NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
NM_001035.3(RYR2):c.4146T>C (p.Ser1382=)
NM_001035.3(RYR2):c.4150C>T (p.Leu1384=)
NM_001035.3(RYR2):c.4160+10T>C rs397516530
NM_001035.3(RYR2):c.4160+15C>G
NM_001035.3(RYR2):c.4160+16G>C

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