ClinVar Miner

List of variants in gene RYR2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001035.3(RYR2):c.4684-5G>C rs7522981 0.01334
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.7342+16A>G rs76678214 0.00698
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001035.3(RYR2):c.13782+20A>G rs368059068 0.00162
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001035.3(RYR2):c.309+7C>T rs377710043 0.00146
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
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.615C>T (p.Ala205=) rs112680790 0.00063
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505 0.00038
NM_001035.3(RYR2):c.3067-16_3067-15del rs727504453 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.10143-19T>C rs373127797 0.00021
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=) rs763801208 0.00016
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=) rs368103385 0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg) rs771590345 0.00003
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.1203T>C (p.Asp401=) rs1196750903 0.00001
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln) rs967199869 0.00001
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys) rs1470689668 0.00001
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu) rs776018906 0.00001
NM_001035.3(RYR2):c.2941A>G (p.Met981Val) rs768893657 0.00001
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys) rs1271333166 0.00001
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp) rs368920731 0.00001
NM_001035.3(RYR2):c.8129+20C>A rs755080362 0.00001
NM_001035.3(RYR2):c.10838+3C>T rs1417807379
NM_001035.3(RYR2):c.1293-18G>A rs1572400333
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn) rs1553458124
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.3565G>A (p.Glu1189Lys) rs794728732
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) rs752212017
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4636C>T (p.Gln1546Ter)
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly) rs1064794183
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.815G>A (p.Arg272His) rs377368967
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436

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