ClinVar Miner

List of variants reported as likely benign for Dilated Cardiomyopathy, Dominant by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_005159.4(ACTC1):c.*918delA rs34323254 0.13239
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_000021.3(PSEN1):c.-296C>T rs1800839 0.05747
NM_001018004.2(TPM1):c.*119T>C rs138843544 0.02527
NM_000447.2(PSEN2):c.*536G>A rs16846619 0.02363
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_003476.4(CSRP3):c.-252G>A rs59444364 0.01356
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01123
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000447.2(PSEN2):c.-400C>T rs186308126 0.00465
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_000337.6(SGCD):c.*1846_*1847dup rs527436848 0.00258
NM_000257.4(MYH7):c.3853+7C>T rs45467397 0.00247
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001018005.1(TPM1):c.-206G>A rs17525848 0.00111
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000256.3(MYBPC3):c.*230del rs376645369
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala) rs554694434
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_001042475.3(CEP85L):c.1020+5609_1020+5610del rs141447190
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001943.5(DSG2):c.*944dup rs368604939
NM_004100.5(EYA4):c.-227dup rs138964393
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_014000.3(VCL):c.*990_*991dup rs397804906
NM_014391.3(ANKRD1):c.*203TTTA[2] rs143761686
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.652-13del rs3839929
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_144573.4(NEXN):c.*418dup rs368295679

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