ClinVar Miner

List of variants reported as benign for Cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) rs34327395 0.00921
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile) rs80136515 0.00471
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) rs34086871 0.00262
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838 0.00084
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) rs202008454 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005

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