ClinVar Miner

List of variants studied for Cardiomyopathy by Cohesion Phenomics

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.69057
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51373
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.47991
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35431
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29561
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.26887
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.26492
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.23032
NM_001943.5(DSG2):c.828+16C>A rs3737378 0.22573
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.17788
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13321
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.04876
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) rs3729841 0.04860
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04493
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04306
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03103
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.02847
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02618
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02115
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01316
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00648
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00647
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00199
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00167
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NC_000011.10:g.47349937del rs11570050
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114

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