ClinVar Miner

List of variants studied for cardiomyopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) rs371578161 0.00021
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met) rs780829334 0.00006
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_170707.4(LMNA):c.1699-7T>C rs771074100 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) rs1565627873 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.493G>A (p.Glu165Lys) rs867067602 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp) rs199473576 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001105206.3(LAMA4):c.5206+1G>A rs368035482 0.00001
NM_001458.5(FLNC):c.2811+4C>T rs146715204 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp) rs745812984 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NC_000010.11:g.119675031_119678711del
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NM_000117.3(EMD):c.22del (p.Ser8fs)
NM_000152.5(GAA):c.1336A>G (p.Ile446Val) rs775612060
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr) rs1715176840
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1432_1436delinsGC (p.Ser478_Glu479delinsAla) rs2142861363
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del) rs730880643
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1614C>A (p.Cys538Ter) rs1892756939
NM_000257.4(MYH7):c.2163-1G>A rs606231334
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn) rs606231340
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys) rs869130333
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys) rs1892375580
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) rs1892274161
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) rs1892176969
NM_000257.4(MYH7):c.571G>A (p.Val191Ile) rs2138682370
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.3878C>G (p.Ala1293Gly)
NM_000335.5(SCN5A):c.5062G>A (p.Asp1688Asn) rs775538425
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) rs727504559
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs) rs1393661338
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.365G>A (p.Arg122His) rs201306582
NM_001018005.2(TPM1):c.839A>C (p.Asp280Ala) rs2036005410
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs) rs2150146622
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) rs1679845277
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) rs1685193967
NM_001105206.3(LAMA4):c.945C>G (p.Asn315Lys)
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter) rs1489832770
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser) rs2093121464
NM_001267550.2(TTN):c.28383del (p.Gly9462fs) rs2154295037
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.48638+1del
NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter) rs2056671421
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter) rs1160660090
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) rs2050024892
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs) rs2154164725
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs) rs1702181550
NM_001267550.2(TTN):c.96464del (p.Val32155fs) rs2154143564
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284
NM_001276345.2(TNNT2):c.431G>C (p.Arg144Pro) rs754037135
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer) rs2073222422
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.523+1G>T rs553299589
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly) rs2037994433
NM_002880.4(RAF1):c.1880G>A (p.Arg627Gln) rs730881006
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
NM_004006.3(DMD):c.4684del (p.Arg1562fs) rs2147473202
NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) rs397507475
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) rs1800500908
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu) rs757300149
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.2124G>T (p.Glu708Asp) rs1759074309
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
NM_005343.4(HRAS):c.112-59_*6-51del
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu) rs1671228827
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu) rs2147962674
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_012250.6(RRAS2):c.560C>G (p.Pro187Arg)
NM_016203.4(PRKAG2):c.1073T>A (p.Phe358Tyr) rs2151014616
NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs) rs1746589361
NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs) rs1746359403
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2152del (p.Ala718fs) rs760915248
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.633A>T (p.Arg211Ser) rs745502254
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter)
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.193G>C (p.Glu65Gln) rs1168314722
NM_170707.4(LMNA):c.409C>G (p.Leu137Val) rs747998566
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_182914.3(SYNE2):c.18165T>A (p.Asp6055Glu) rs1567631199
m.8344A>G rs118192098

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