ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504 0.00057
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001035.3(RYR2):c.9450-3T>C rs188671846 0.00049
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11092-6A>T rs397516501 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.13329-11T>G rs778172821 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001035.3(RYR2):c.13329-3T>C rs542440592 0.00007
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg) rs569386030 0.00007
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu) rs397516522 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln) rs747605864 0.00005
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu) rs1036775644 0.00004
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser) rs727504983 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln) rs727504976 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val) rs745839689 0.00004
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr) rs397516514 0.00003
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr) rs761505396 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile) rs397516497 0.00002
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe) rs558910032 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys) rs397516546 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001035.3(RYR2):c.11040-3C>T rs876657984 0.00001
NM_001035.3(RYR2):c.11174T>C (p.Leu3725Pro) rs727505346 0.00001
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg) rs397516506 0.00001
NM_001035.3(RYR2):c.13328+3A>G rs776115513 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu) rs876657985 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser) rs727504969 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr) rs397516535 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr) rs767728159 0.00001
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp) rs771469528 0.00001
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr) rs397516548 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp) rs876657995 0.00001
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu) rs747933306 0.00001
NM_001035.2(RYR2):c.(?_49)_(168_?)del
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr) rs876657983
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val) rs727503403
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr) rs764621718
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys) rs201749277
NM_001035.3(RYR2):c.11217G>T (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.11457G>A (p.Met3819Ile) rs727503405
NM_001035.3(RYR2):c.1197G>A (p.Met399Ile) rs727503397
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His) rs727505103
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser) rs397516511
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_001035.3(RYR2):c.14440A>G (p.Met4814Val) rs397516516
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly) rs876657986
NM_001035.3(RYR2):c.14591-9del rs876657987
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile) rs397516520
NM_001035.3(RYR2):c.2334G>A (p.Met778Ile) rs397516521
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala) rs754520058
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile) rs727505044
NM_001035.3(RYR2):c.281A>T (p.Asp94Val) rs876657989
NM_001035.3(RYR2):c.2881G>T (p.Val961Leu) rs876657990
NM_001035.3(RYR2):c.308A>C (p.Lys103Thr) rs727505209
NM_001035.3(RYR2):c.3128A>G (p.Lys1043Arg) rs727504939
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly) rs149760466
NM_001035.3(RYR2):c.3656A>C (p.Lys1219Thr) rs727505149
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp) rs868750680
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) rs749434532
NM_001035.3(RYR2):c.5005A>G (p.Asn1669Asp) rs397516538
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val) rs876657991
NM_001035.3(RYR2):c.5543C>T (p.Pro1848Leu) rs397516543
NM_001035.3(RYR2):c.5609T>G (p.Val1870Gly) rs1553522588
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val) rs727504792
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser) rs397516544
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val) rs1553531464
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln) rs397516547
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu) rs727503401
NM_001035.3(RYR2):c.7513-8T>G rs727503402
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val) rs752607318
NM_001035.3(RYR2):c.8209-7_8209-4del rs876657992
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser) rs369963696
NM_001035.3(RYR2):c.8426A>C (p.Gln2809Pro) rs397516551
NM_001035.3(RYR2):c.9129-10T>A rs876657993
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe) rs397516552

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