ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance for Cardiomyopathy

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.154C>T (p.Leu52=) rs199910162 0.00008
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) rs146568303 0.00007
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.2278G>A (p.Ala760Thr) rs757134452 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.*10T>C rs991306355 0.00001
NM_001103.4(ACTN2):c.1099A>G (p.Met367Val) rs771923322 0.00001
NM_001103.4(ACTN2):c.1107+3G>A rs764249491 0.00001
NM_001103.4(ACTN2):c.1181G>A (p.Arg394Gln) rs758358941 0.00001
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln) rs776947613 0.00001
NM_001103.4(ACTN2):c.1355C>G (p.Ala452Gly) rs201875003 0.00001
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe) rs759778745 0.00001
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val) rs770807444 0.00001
NM_001103.4(ACTN2):c.1657-9C>T rs777367297 0.00001
NM_001103.4(ACTN2):c.1726A>G (p.Met576Val) rs764719024 0.00001
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721 0.00001
NM_001103.4(ACTN2):c.2609C>T (p.Ser870Leu) rs368754823 0.00001
NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) rs747843638 0.00001
NM_001103.4(ACTN2):c.440C>T (p.Ser147Leu) rs749667083 0.00001
NM_001103.4(ACTN2):c.449-3C>T rs1247389339 0.00001
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln) rs528123945 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr) rs574401232 0.00001
NM_001103.4(ACTN2):c.959T>G (p.Leu320Arg) rs1407369744 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001103.4(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.4(ACTN2):c.1240G>A (p.Glu414Lys) rs1558243189
NM_001103.4(ACTN2):c.1256-2A>C rs1659170030
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro) rs1572137003
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1524G>T (p.Glu508Asp) rs772606052
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.1916G>A (p.Arg639Lys) rs1659477796
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2196C>T (p.Ala732=) rs1558250284
NM_001103.4(ACTN2):c.2384C>T (p.Ala795Val) rs2102951500
NM_001103.4(ACTN2):c.348dup (p.Ile117fs) rs1658302811
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.823G>A (p.Val275Met) rs2102919163
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys) rs1572132678

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