ClinVar Miner

List of variants reported as likely benign for not provided by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_133379.5(TTN):c.14754T>G (p.Pro4918=) rs72648908 0.00190
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00031
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002471.4(MYH6):c.5476G>A (p.Gly1826Ser) rs202141059 0.00013
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001267550.2(TTN):c.78117G>A (p.Lys26039=) rs772900049 0.00003
NM_005751.5(AKAP9):c.1203C>T (p.Val401=) rs748951815 0.00003
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_001103.4(ACTN2):c.784-525G>A rs1040815384 0.00002
NM_001018005.2(TPM1):c.573C>T (p.Ala191=) rs780507307 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981 0.00001
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.65142C>G (p.Val21714=) rs1575973571
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.5477G>A (p.Gly1826Asp) rs200260229
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) rs140704891
NM_144573.4(NEXN):c.1593A>G (p.Arg531=) rs1359392123
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083

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