ClinVar Miner

List of variants reported as benign for Catecholaminergic polymorphic ventricular tachycardia 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.10935+18C>T rs2797445 0.98361
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189 0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301 0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_006073.4(TRDN):c.601C>G (p.Leu201Val) rs6902416 0.84721
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_001035.3(RYR2):c.13476+16A>G rs2256242 0.60593
NM_006073.4(TRDN):c.484+1457C>T rs9490795 0.56990
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_006073.4(TRDN):c.2051-19G>A rs7754205 0.42872
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) rs6901953 0.35392
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_006073.4(TRDN):c.1186+16C>T rs3813328 0.33405
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_006073.4(TRDN):c.1370-11C>A rs9401658 0.16989
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_001035.3(RYR2):c.4684-11C>T rs7546045 0.05719
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216 0.03524
NM_006073.4(TRDN):c.1805-6C>T rs201544606 0.03259
NM_006073.4(TRDN):c.1105+5G>A rs41284430 0.03253
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
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_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
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_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) rs35047281 0.01253
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
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_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
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_006073.4(TRDN):c.1871-15G>A rs59935057 0.00724
NM_006073.4(TRDN):c.274G>A (p.Val92Ile) rs34808221 0.00711
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
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_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001035.3(RYR2):c.10143-18A>G rs3736542 0.00594
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_006073.4(TRDN):c.1567+19T>C rs182813107 0.00459
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
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.11880+16G>A rs73103904 0.00306
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583 0.00282
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
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.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
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.10324-4A>G rs72751287 0.00203
NM_001035.3(RYR2):c.13782+20A>G rs368059068 0.00162
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
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.2301G>T (p.Ser767=) rs117588730 0.00150
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.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341 0.00119
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405 0.00103
NM_006073.4(TRDN):c.932-4C>G rs77768246 0.00098
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 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.11557+14C>T rs374155447 0.00066
NM_001035.3(RYR2):c.14090+14C>T rs374425124 0.00066
NM_001035.3(RYR2):c.1110A>G (p.Leu370=) rs150705689 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 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.13261-18C>T rs376854613 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477 0.00046
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.14152-17C>G rs368078898 0.00043
NM_001035.3(RYR2):c.2397-16C>T rs12081629 0.00042
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_006073.4(TRDN):c.1472-12G>A rs375364108 0.00036
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
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.14809-20C>T rs141119268 0.00028
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699 0.00024
NM_001035.3(RYR2):c.2907-19C>T rs549409624 0.00023
NM_001035.3(RYR2):c.3067-15T>C rs185110433 0.00013
NM_001035.3(RYR2):c.4911-19A>G rs140517111 0.00013
NM_001035.3(RYR2):c.7824+20G>A rs373240466 0.00012
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001232.4(CASQ2):c.421-18G>C rs202228431 0.00011
NM_001232.4(CASQ2):c.421-20A>T rs201559752 0.00011
NM_001035.3(RYR2):c.5754C>T (p.Val1918=) rs397516545 0.00009
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_001035.3(RYR2):c.12669G>A (p.Lys4223=) rs147887477 0.00007
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.3507C>T (p.Asn1169=) rs746106606 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_001035.3(RYR2):c.5917-12T>G rs746414195 0.00006
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) rs368207198 0.00006
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525 0.00004
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) rs1006109370 0.00004
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=) rs546545700 0.00004
NM_001035.3(RYR2):c.9129-20C>G rs770609583 0.00004
NM_001035.3(RYR2):c.9449+16G>A rs765138478 0.00004
NM_001035.3(RYR2):c.1171-14T>G rs751389436 0.00003
NM_001035.3(RYR2):c.348A>G (p.Gly116=) rs775744289 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_006073.4(TRDN):c.2050+16G>A rs543899749 0.00003
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=) rs573948177 0.00002
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030 0.00001
NM_001035.3(RYR2):c.1077A>G (p.Ser359=) rs727505317 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.2613+16C>T rs542609503 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=) rs397516540 0.00001
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile) rs555692728 0.00001
NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr) rs759048462 0.00001
NM_001035.3(RYR2):c.10555-7dup rs776795619
NM_001035.3(RYR2):c.10936-5dup
NM_001035.3(RYR2):c.1108C>T (p.Leu370=) rs534621173
NM_001035.3(RYR2):c.11558-12dup rs769193958
NM_001035.3(RYR2):c.1170+19dup rs1167148257
NM_001035.3(RYR2):c.11776-18T>A
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
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.1476+18C>G
NM_001035.3(RYR2):c.2613+5_2613+6insTTGC rs747260754
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.3599-10_3599-9del
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3599-9dup rs11331089
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.385-9A>G rs140998248
NM_001035.3(RYR2):c.4436+21dup
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala) rs41315858
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.6022+13del rs1166918981
NM_001035.3(RYR2):c.6793-4G>A rs568936247
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12del
NM_001035.3(RYR2):c.7222-8dup
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001035.3(RYR2):c.7825-10del
NM_001035.3(RYR2):c.8872C>A (p.Gln2958Lys)
NM_001035.3(RYR2):c.9128+18dup
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9581-545C>A rs12040571
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7T>C
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_001232.4(CASQ2):c.784-17T>G rs2997741
NM_001232.4(CASQ2):c.940-11del
NM_006073.4(TRDN):c.1052-10dup
NM_006073.4(TRDN):c.1105+13del
NM_006073.4(TRDN):c.1135+17dup
NM_006073.4(TRDN):c.1187-2A>G rs578024729
NM_006073.4(TRDN):c.1220-19del
NM_006073.4(TRDN):c.1220-19dup rs750105897
NM_006073.4(TRDN):c.1220-20_1220-19del
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.1511-13del rs768721605
NM_006073.4(TRDN):c.1511-13dup
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006073.4(TRDN):c.1784-10dup rs1776904446
NM_006073.4(TRDN):c.1784-17del rs750605412
NM_006073.4(TRDN):c.1784-17dup
NM_006073.4(TRDN):c.1805-21dup rs11373802
NM_006073.4(TRDN):c.1975+9G>A rs111276785
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006073.4(TRDN):c.931+18dup rs201431159

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