ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Medical Research Institute, Tokyo Medical and Dental University

Included ClinVar conditions (334):
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ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001394010.1(PTOV1):c.635A>T (p.Lys212Met) rs755715265 0.00019
NM_017699.3(SIDT1):c.2194A>G (p.Lys732Glu) rs531258462 0.00007
NM_001252102.2(KIF21B):c.2224G>A (p.Glu742Lys) rs750865418 0.00006
NM_001282144.2(NLRX1):c.2252G>A (p.Arg751His) rs530058063 0.00006
NM_176810.2(NLRP13):c.190G>A (p.Asp64Asn) rs796052177 0.00006
NM_001099220.3(ZNF862):c.637T>G (p.Trp213Gly) rs563616947 0.00004
NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu) rs771933896 0.00004
NM_001282933.2(ZNF341):c.2164C>T (p.Arg722Cys) rs368945563 0.00004
NM_001308209.2(PRSS57):c.89G>T (p.Gly30Val) rs776563968 0.00004
NM_001361665.2(FGF2):c.-74G>A rs796052159 0.00004
NM_001364905.1(LRBA):c.6124G>A (p.Glu2042Lys) rs754621566 0.00004
NM_001024736.2(CD276):c.338G>A (p.Arg113His) rs770650860 0.00003
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp) rs776550479 0.00003
NM_001372053.1(ANKRD31):c.743G>A (p.Arg248His) rs567553089 0.00003
NM_002115.3(HK3):c.2035G>A (p.Glu679Lys) rs757892659 0.00003
NM_003823.4(TNFRSF6B):c.649G>A (p.Asp217Asn) rs754782569 0.00003
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp) rs796052204 0.00002
NM_001040458.3(ERAP1):c.955A>G (p.Met319Val) rs556623443 0.00002
NM_003086.4(SNAPC4):c.3935G>A (p.Arg1312Gln) rs771245174 0.00002
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_001012418.5(MYLK4):c.451G>A (p.Glu151Lys) rs796052168 0.00001
NM_001025091.2(ABCF1):c.2275C>T (p.Arg759Trp) rs754981516 0.00001
NM_001206999.2(CIT):c.5783C>T (p.Ala1928Val) rs776383369 0.00001
NM_001377142.1(PLCB4):c.448C>T (p.His150Tyr) rs759189106 0.00001
NM_001379403.1(WDR26):c.359G>A (p.Gly120Glu) rs796052210 0.00001
NM_001670.3(ARVCF):c.1792G>A (p.Gly598Arg) rs763923625 0.00001
NM_001907.3(CTRL):c.217G>A (p.Ala73Thr) rs752607432 0.00001
NM_003039.3(SLC2A5):c.808C>T (p.Arg270Trp) rs779760381 0.00001
NM_003364.4(UPP1):c.280C>T (p.Arg94Cys) rs758600283 0.00001
NM_003489.4(NRIP1):c.640A>G (p.Arg214Gly) rs796052182 0.00001
NM_005968.5(HNRNPM):c.76G>A (p.Gly26Ser) rs773444733 0.00001
NM_013381.3(TRHDE):c.2182A>T (p.Ile728Phe) rs796052150 0.00001
NM_014012.6(REM1):c.577G>A (p.Val193Met) rs550409143 0.00001
NM_014611.3(MDN1):c.9722T>C (p.Phe3241Ser) rs796052156 0.00001
NM_015151.4(DIP2A):c.2637+17G>A rs768627699 0.00001
NM_015459.5(ATL3):c.955C>T (p.Arg319Trp) rs776571949 0.00001
NM_015902.6(UBR5):c.2965C>T (p.Arg989Trp) rs754562275 0.00001
NM_016539.4(SIRT6):c.742C>T (p.Arg248Cys) rs201886868 0.00001
NM_018006.5(TRMU):c.1007A>C (p.Gln336Pro) rs796052192 0.00001
NM_020765.3(UBR4):c.6397G>A (p.Ala2133Thr) rs539999527 0.00001
NM_022566.3(TLNRD1):c.845A>G (p.Lys282Arg) rs758561889 0.00001
NM_025061.6(LRRC8E):c.1777G>A (p.Gly593Arg) rs796052173 0.00001
NM_173651.4(FSIP2):c.3943G>A (p.Glu1315Lys) rs796052180 0.00001
NM_175748.4(UBR7):c.293G>A (p.Arg98His) rs751474426 0.00001
NM_205860.3(NR5A2):c.1052A>T (p.Gln351Leu) rs774872040 0.00001
NM_000218.3(KCNQ1):c.683+2T>G rs796052166
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.307+2T>A rs796052196
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_001010870.3(TDRD6):c.4720T>G (p.Cys1574Gly) rs796052164
NM_001010898.4(SLC6A17):c.2021G>A (p.Arg674His) rs796052160
NM_001010985.3(MYBPHL):c.475G>A (p.Gly159Ser) rs796052188
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp) rs796052205
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.12438G>C (p.Glu4146Asp) rs796052206
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13780A>C (p.Lys4594Gln) rs796052207
NM_001035.3(RYR2):c.497C>G (p.Ser166Cys) rs796052203
NM_001047160.3(NET1):c.583C>T (p.Leu195Phe) rs796052153
NM_001067.4(TOP2A):c.263T>C (p.Ile88Thr) rs796052143
NM_001080449.3(DNA2):c.811G>A (p.Gly271Arg) rs796052189
NM_001146197.2(CCDC168):c.[3838G>A];[9652A>G]
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu) rs755287627
NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr) rs796052197
NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala) rs796052198
NM_001161476.3(WDR25):c.840C>A (p.Asp280Glu) rs796052162
NM_001199097.2(BAIAP3):c.2563G>C (p.Ala855Pro) rs796052185
NM_001199161.2(USP19):c.1134G>T (p.Glu378Asp) rs796052187
NM_001206999.2(CIT):c.5786C>A (p.Ser1929Tyr) rs796052161
NM_001252102.2(KIF21B):c.3601C>T (p.Arg1201Trp) rs796052152
NM_001282426.2(PIK3CG):c.574G>A (p.Asp192Asn) rs796052174
NM_001329615.2(SNAPC5):c.223A>G (p.Thr75Ala) rs796052169
NM_001346249.2(RALGAPA1):c.7514G>C (p.Arg2505Pro) rs796052176
NM_001372044.2(SHANK3):c.2368G>A (p.Asp790Asn) rs1555909545
NM_001378328.1(CELSR1):c.3406G>A (p.Asp1136Asn) rs796052178
NM_001379403.1(WDR26):c.912G>T (p.Leu304Phe) rs796052140
NM_002417.5(MKI67):c.7106T>C (p.Val2369Ala) rs796052184
NM_002514.4(CCN3):c.605C>G (p.Ser202Ter) rs796052179
NM_002864.2(PZP):c.[1504G>A];[3325G>A]
NM_002997.5(SDC1):c.188C>T (p.Ser63Phe) rs777304384
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003177.7(SYK):c.154G>T (p.Ala52Ser) rs796052158
NM_003450.3(ZNF174):c.1204C>T (p.Arg402Ter) rs761098156
NM_003619.4(PRSS12):c.1516G>A (p.Glu506Lys) rs796052154
NM_004257.6(TGFBRAP1):c.642G>C (p.Lys214Asn) rs796052186
NM_004523.4(KIF11):c.205G>A (p.Asp69Asn) rs796052144
NM_005035.4(POLRMT):c.2698G>A (p.Glu900Lys) rs796052172
NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu) rs796052199
NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr) rs796052200
NM_005858.4(AKAP8):c.787G>C (p.Gly263Arg) rs754301101
NM_014263.4(YME1L1):c.859G>A (p.Val287Met) rs796052141
NM_014390.4(SND1):c.1871A>C (p.Glu624Ala) rs796052170
NM_014588.6(VSX1):c.310G>C (p.Ala104Pro) rs796052181
NM_014697.3(NOS1AP):c.1276G>A (p.Val426Met) rs796052201
NM_014697.3(NOS1AP):c.824C>T (p.Ser275Phe) rs796052202
NM_014989.7(RIMS1):c.1477G>C (p.Glu493Gln) rs796052194
NM_015631.6(TCTN3):c.152C>A (p.Ser51Ter) rs796052142
NM_015902.5(UBR5):c.[3752G>A];[5837A>G]
NM_017864.4(INTS8):c.484A>C (p.Lys162Gln) rs796052157
NM_018040.5(GPATCH2):c.1526del (p.Gly509fs) rs796052151
NM_018401.3(STK32B):c.487A>G (p.Thr163Ala) rs796052163
NM_020765.3(UBR4):c.1097A>G (p.Lys366Arg) rs796052208
NM_020765.3(UBR4):c.1349G>T (p.Arg450Leu) rs757121959
NM_020765.3(UBR4):c.1557G>C (p.Gln519His) rs796052209
NM_021226.4(ARHGAP22):c.14A>C (p.Lys5Thr) rs796052167
NM_021927.3(GUF1):c.655G>T (p.Asp219Tyr) rs796052183
NM_024949.6(WWC2):c.3260T>C (p.Leu1087Pro) rs796052193
NM_025130.4(HKDC1):c.1001T>A (p.Ile334Asn) rs796052175
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) rs796052171
NM_052892.5(PKD1L2):c.1080C>A (p.Cys360Ter) rs796052190
NM_058004.4(PI4KA):c.421G>A (p.Asp141Asn) rs796052191
NM_058004.4(PI4KA):c.912C>G (p.Ile304Met) rs764985938
NM_138964.4(PROKR1):c.689A>C (p.Lys230Thr) rs796052145
NM_153702.4(ELMOD2):c.674A>G (p.Lys225Arg) rs796052155

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