ClinVar Miner

List of variants studied for polymorphic ventricular tachycardia by Genome-Nilou Lab

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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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.3423+49A>G rs2805390 0.90629
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_006888.6(CALM1):c.-86G>A rs12886342 0.76686
NM_005184.4(CALM3):c.4-73T>C rs3729510 0.76680
NM_005184.4(CALM3):c.178+66T>C rs3729760 0.76459
NM_001035.3(RYR2):c.11326-23C>T rs2253831 0.73062
NM_001035.3(RYR2):c.2718+26A>G rs2618702 0.71570
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001232.4(CASQ2):c.320-77C>T rs7538337 0.70440
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.13783-21G>A rs790902 0.64306
NM_001035.3(RYR2):c.13476+16A>G rs2256242 0.60593
NM_001232.4(CASQ2):c.784-89C>T rs2997742 0.58397
NM_006073.4(TRDN):c.484+41C>T rs12198167 0.56890
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_001232.4(CASQ2):c.738-109G>A rs4475752 0.51757
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_006888.6(CALM1):c.4-63C>T rs2268433 0.49644
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_001035.3(RYR2):c.6556-41G>A rs10802626 0.39733
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_001232.4(CASQ2):c.939+23C>T rs3811003 0.39341
NM_001035.3(RYR2):c.14091-25G>A rs9428384 0.37110
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) rs6901953 0.35392
NM_001035.3(RYR2):c.13476+47G>A rs16835818 0.34821
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.1370-11C>A rs9401658 0.16989
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_001232.3(CASQ2):c.-218T>C rs78585518 0.09790
NM_001232.4(CASQ2):c.-137T>C rs12069574 0.05139
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001232.4(CASQ2):c.-21G>A rs12067472 0.01521
NM_001232.3(CASQ2):c.-206T>C rs112210550 0.01359
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001232.4(CASQ2):c.-234C>A rs553316024 0.00067
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767 0.00028
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001232.4(CASQ2):c.607-15T>C rs138298959 0.00021
NM_001232.4(CASQ2):c.*929C>T rs547458797 0.00019
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=) rs137999497 0.00019
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001232.4(CASQ2):c.177G>A (p.Pro59=) rs371260149 0.00016
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001232.4(CASQ2):c.-225G>A rs535999427 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_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001232.4(CASQ2):c.*457C>T rs375002557 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) rs376147306 0.00009
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly) rs397516640 0.00006
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001232.4(CASQ2):c.897C>T (p.Pro299=) rs752053912 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys) rs781113955 0.00004
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro) rs762153545 0.00003
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=) rs751885773 0.00003
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn) rs1553197917 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.421-7A>T rs776008006 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.627G>A (p.Leu209=) rs1291884749 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.681C>T (p.Ile227=) rs769189583 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) rs377691566 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) rs976749091 0.00003
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) rs372865933 0.00002
NM_001232.4(CASQ2):c.114C>T (p.Ser38=) rs571353035 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 0.00002
NM_001232.4(CASQ2):c.474C>T (p.Phe158=) rs754879716 0.00002
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) rs750680032 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 0.00002
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) rs772180952 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) rs886045160 0.00001
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys) rs575326580 0.00001
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=) rs758060229 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val) rs940257382 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala) rs755766840 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_001232.4(CASQ2):c.333A>G (p.Glu111=) rs727502910 0.00001
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) rs570840019 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) rs779063209 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=) rs886038422 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.702A>G (p.Glu234=) rs756693726 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.912G>A (p.Leu304=) rs146074006 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=) rs754889548
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del) rs202241842
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) rs765914619
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu) rs776130201
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
NM_001232.4(CASQ2):c.177G>T (p.Pro59=) rs371260149
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.235-2A>G rs1060502164
NM_001232.4(CASQ2):c.240G>A (p.Val80=) rs2101101070
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) rs1181984320
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) rs2101130741
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys) rs1557798151
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
NM_001232.4(CASQ2):c.423A>G (p.Leu141=) rs770571012
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.606+1G>C rs786205791
NM_001232.4(CASQ2):c.625T>C (p.Leu209=) rs2101079232
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu) rs780769796
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-12_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.738-5del rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7_738-5del rs56889721
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_001232.4(CASQ2):c.784-17T>G rs2997741
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) rs377691566
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006073.4(TRDN):c.233-14_233-13del rs66509682

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