ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708 0.00012
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.463+9C>T rs559545973 0.00009
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400 0.00008
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_001035.3(RYR2):c.11476+10A>C rs794728702 0.00004
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506 0.00004
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln) rs751520590 0.00003
NM_001035.3(RYR2):c.3423+6T>G rs1057521957 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile) rs375218751 0.00002
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln) rs780643623 0.00002
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) rs368064371 0.00001
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala) rs544496844 0.00001
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) rs747138259 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742 0.00001
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys) rs780752317 0.00001
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile) rs775534249 0.00001
NM_001035.3(RYR2):c.2719-4T>A rs397516523 0.00001
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp) rs777740439 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp) rs771469528 0.00001
NM_001035.3(RYR2):c.5916+9A>G rs1002006336 0.00001
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala) rs780707255 0.00001
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys) rs770847446 0.00001
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800 0.00001
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala) rs777279244 0.00001
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873 0.00001
NM_001035.3(RYR2):c.8896-9T>C rs773401697 0.00001
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.10691A>G (p.Lys3564Arg) rs2149138633
NM_001035.3(RYR2):c.10813A>G (p.Met3605Val) rs745936598
NM_001035.3(RYR2):c.10818C>A (p.Ala3606=) rs1558298221
NM_001035.3(RYR2):c.11306G>T (p.Gly3769Val) rs1558353446
NM_001035.3(RYR2):c.12085T>C (p.Ser4029Pro) rs1558403952
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val) rs1658373672
NM_001035.3(RYR2):c.13553T>C (p.Leu4518Pro) rs1558422697
NM_001035.3(RYR2):c.13717C>T (p.Arg4573Cys) rs764900002
NM_001035.3(RYR2):c.14567T>C (p.Val4856Ala) rs2102825767
NM_001035.3(RYR2):c.14590+8T>A rs1662158417
NM_001035.3(RYR2):c.14593C>G (p.Leu4865Val) rs1197708875
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1691G>A (p.Arg564Lys) rs1660408895
NM_001035.3(RYR2):c.3208G>C (p.Asp1070His) rs1670298968
NM_001035.3(RYR2):c.4276-9T>C rs1559081633
NM_001035.3(RYR2):c.4635A>C (p.Ala1545=) rs1559095013
NM_001035.3(RYR2):c.4815G>A (p.Lys1605=) rs1559110544
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.3(RYR2):c.4938G>C (p.Glu1646Asp) rs1678197035
NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr) rs1681178084
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr) rs1282045319
NM_001035.3(RYR2):c.710T>C (p.Leu237Pro) rs1400197755
NM_001035.3(RYR2):c.8692A>G (p.Ile2898Val) rs1558193694
NM_001035.3(RYR2):c.9581-8T>C rs1558258551
NM_001035.3(RYR2):c.9705G>A (p.Met3235Ile) rs1009977437

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