ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance for Arrhythmogenic right ventricular cardiomyopathy

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001035.3(RYR2):c.13957-5C>G rs189772599 0.00010
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys) rs763004638 0.00003
NM_001035.3(RYR2):c.11039+7T>C rs569571855 0.00002
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met) rs377030538 0.00002
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970 0.00002
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser) rs1299197961 0.00001
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile) rs1210103464 0.00001
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser) rs1330847491 0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612 0.00001
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=) rs748716535 0.00001
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg) rs750510651 0.00001
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys) rs748762074 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.*1023G>T rs886046304
NM_001035.3(RYR2):c.*1065A>G rs886046305
NM_001035.3(RYR2):c.*1070G>T rs886046306
NM_001035.3(RYR2):c.*167_*168dup rs886046284
NM_001035.3(RYR2):c.*187C>A rs886046285
NM_001035.3(RYR2):c.*206C>A rs886046286
NM_001035.3(RYR2):c.*272C>A rs886046287
NM_001035.3(RYR2):c.*354A>G rs886046289
NM_001035.3(RYR2):c.*378C>A rs886046290
NM_001035.3(RYR2):c.*578del rs113047070
NM_001035.3(RYR2):c.*578dup rs113047070
NM_001035.3(RYR2):c.*642A>C rs886046297
NM_001035.3(RYR2):c.*646dup rs377407067
NM_001035.3(RYR2):c.*715_*716insGC rs886046302
NM_001035.3(RYR2):c.*716del rs397983403
NM_001035.3(RYR2):c.*716dup rs397983403
NM_001035.3(RYR2):c.*717GCCCCC[1] rs886046299
NM_001035.3(RYR2):c.*79C>A rs886046282
NM_001035.3(RYR2):c.*84del rs764277833
NM_001035.3(RYR2):c.-20C>A rs778527185
NM_001035.3(RYR2):c.-27C>A rs886046260
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly) rs1553453324
NM_001035.3(RYR2):c.10323+13dup rs886046276
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr) rs730880195
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr) rs1374577335
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys) rs886046278
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys) rs1299849256
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly) rs876657986
NM_001035.3(RYR2):c.2204-10C>A rs886046264
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu) rs1278512393
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr) rs1194621692
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu) rs886046267
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys) rs886046268
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys) rs1057518518
NM_001035.3(RYR2):c.5306T>C (p.Val1769Ala) rs1553522244
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile) rs2148667252
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp) rs2148728656
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr) rs373193260
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys) rs1683039143
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu) rs776621043
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn) rs2148846582

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