ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance for Cardiovascular phenotype

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
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.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.2540C>T (p.Ala847Val) rs370569935 0.00009
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met) rs144025957 0.00007
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) rs146568303 0.00007
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.1646A>T (p.Glu549Val) rs149794430 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 0.00003
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) rs772909106 0.00003
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2668G>A (p.Gly890Arg) rs536297856 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu) rs779350391 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) rs200969588 0.00002
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met) rs764538888 0.00002
NM_001103.4(ACTN2):c.2154+4C>T rs1342624709 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp) rs369629689 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.920G>A (p.Arg307Gln) rs112882610 0.00002
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys) rs769485633 0.00002
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206 0.00001
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.1228G>T (p.Ala410Ser) rs1258500915 0.00001
NM_001103.4(ACTN2):c.1238A>T (p.His413Leu) rs763060410 0.00001
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274 0.00001
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln) rs776947613 0.00001
NM_001103.4(ACTN2):c.1333G>A (p.Glu445Lys) rs773942709 0.00001
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly) rs566860712 0.00001
NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser) rs1197619498 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe) rs759778745 0.00001
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys) rs1401807611 0.00001
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val) rs770807444 0.00001
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser) rs758034866 0.00001
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met) rs876661341 0.00001
NM_001103.4(ACTN2):c.1703C>G (p.Ala568Gly) rs776805533 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1804G>A (p.Val602Ile) rs377356540 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys) rs1446087607 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001103.4(ACTN2):c.1910G>A (p.Arg637His) rs1259556889 0.00001
NM_001103.4(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710 0.00001
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg) rs1173244523 0.00001
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu) rs752552408 0.00001
NM_001103.4(ACTN2):c.1975-5C>G rs369148572 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053 0.00001
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His) rs772409484 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.2449T>C (p.Phe817Leu) rs757713931 0.00001
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) rs372348405 0.00001
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp) rs745317077 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter) rs1177830945 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 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.731C>T (p.Ala244Val) rs938796645 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu) rs754614411 0.00001
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp) rs747674727 0.00001
NM_001103.4(ACTN2):c.980G>A (p.Arg327His) rs554811924 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001103.4(ACTN2):c.1001A>G (p.Lys334Arg)
NM_001103.4(ACTN2):c.1017C>G (p.Cys339Trp)
NM_001103.4(ACTN2):c.102del (p.Ala35fs)
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys) rs1325419598
NM_001103.4(ACTN2):c.1149G>T (p.Lys383Asn)
NM_001103.4(ACTN2):c.1150G>T (p.Gly384Cys)
NM_001103.4(ACTN2):c.1156G>A (p.Glu386Lys)
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly) rs376144003
NM_001103.4(ACTN2):c.1208C>A (p.Ala403Asp)
NM_001103.4(ACTN2):c.1237C>G (p.His413Asp)
NM_001103.4(ACTN2):c.1240G>A (p.Glu414Lys) rs1558243189
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp) rs775057676
NM_001103.4(ACTN2):c.1255+1G>C rs1367331045
NM_001103.4(ACTN2):c.1271T>C (p.Leu424Ser)
NM_001103.4(ACTN2):c.1281G>T (p.Lys427Asn)
NM_001103.4(ACTN2):c.1298C>G (p.Ser433Trp)
NM_001103.4(ACTN2):c.1300C>G (p.Leu434Val)
NM_001103.4(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.4(ACTN2):c.1348G>A (p.Asp450Asn) rs774252565
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)
NM_001103.4(ACTN2):c.1444C>G (p.Arg482Gly) rs199604590
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1538C>T (p.Thr513Ile)
NM_001103.4(ACTN2):c.1603G>A (p.Ala535Thr)
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
NM_001103.4(ACTN2):c.1665C>G (p.Ile555Met)
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val) rs776805533
NM_001103.4(ACTN2):c.1739A>G (p.Asn580Ser)
NM_001103.4(ACTN2):c.1753G>A (p.Val585Met)
NM_001103.4(ACTN2):c.175A>G (p.Ile59Val)
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.4(ACTN2):c.1778T>C (p.Ile593Thr)
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly) rs1572143496
NM_001103.4(ACTN2):c.1793C>T (p.Pro598Leu)
NM_001103.4(ACTN2):c.1816G>C (p.Glu606Gln)
NM_001103.4(ACTN2):c.1825A>C (p.Thr609Pro)
NM_001103.4(ACTN2):c.1832G>A (p.Trp611Ter)
NM_001103.4(ACTN2):c.1840-5G>A rs2102942477
NM_001103.4(ACTN2):c.1861C>T (p.Arg621Cys) rs756407851
NM_001103.4(ACTN2):c.1888G>A (p.Ala630Thr) rs1338074315
NM_001103.4(ACTN2):c.1898A>G (p.His633Arg)
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
NM_001103.4(ACTN2):c.191A>G (p.Glu64Gly)
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
NM_001103.4(ACTN2):c.1949G>T (p.Gly650Val)
NM_001103.4(ACTN2):c.1969A>T (p.Met657Leu)
NM_001103.4(ACTN2):c.1975-5C>T
NM_001103.4(ACTN2):c.1984C>G (p.Arg662Gly) rs150021739
NM_001103.4(ACTN2):c.1990T>A (p.Ser664Thr)
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
NM_001103.4(ACTN2):c.2060A>C (p.Asn687Thr)
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
NM_001103.4(ACTN2):c.2061C>A (p.Asn687Lys)
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2070C>A (p.Asn690Lys)
NM_001103.4(ACTN2):c.2087A>G (p.Glu696Gly)
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2168G>A (p.Gly723Glu)
NM_001103.4(ACTN2):c.2207A>T (p.Asn736Ile)
NM_001103.4(ACTN2):c.2211G>T (p.Glu737Asp)
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001103.4(ACTN2):c.2295T>G (p.Phe765Leu)
NM_001103.4(ACTN2):c.22G>C (p.Val8Leu)
NM_001103.4(ACTN2):c.22G>T (p.Val8Leu)
NM_001103.4(ACTN2):c.2353A>G (p.Met785Val)
NM_001103.4(ACTN2):c.2368-1G>C
NM_001103.4(ACTN2):c.2395A>G (p.Thr799Ala)
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser) rs776329264
NM_001103.4(ACTN2):c.241G>C (p.Gly81Arg)
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu) rs1658299884
NM_001103.4(ACTN2):c.2452A>G (p.Met818Val)
NM_001103.4(ACTN2):c.2467G>T (p.Ala823Ser) rs2102951725
NM_001103.4(ACTN2):c.2470G>C (p.Asp824His)
NM_001103.4(ACTN2):c.2479A>G (p.Thr827Ala)
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=) rs2102951896
NM_001103.4(ACTN2):c.2527-3C>T
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001103.4(ACTN2):c.2572C>T (p.Gln858Ter)
NM_001103.4(ACTN2):c.2598G>T (p.Met866Ile)
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
NM_001103.4(ACTN2):c.2615C>A (p.Pro872Gln)
NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro)
NM_001103.4(ACTN2):c.274A>C (p.Met92Leu)
NM_001103.4(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
NM_001103.4(ACTN2):c.361+5G>C rs1553300073
NM_001103.4(ACTN2):c.362-4G>A rs1014042332
NM_001103.4(ACTN2):c.368T>C (p.Val123Ala)
NM_001103.4(ACTN2):c.41A>G (p.Tyr14Cys)
NM_001103.4(ACTN2):c.432G>C (p.Gln144His)
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.518T>C (p.Ile173Thr)
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val) rs371930065
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.58A>G (p.Met20Val)
NM_001103.4(ACTN2):c.649G>A (p.Glu217Lys)
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) rs904672923
NM_001103.4(ACTN2):c.713C>G (p.Pro238Arg)
NM_001103.4(ACTN2):c.725A>G (p.Glu242Gly)
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
NM_001103.4(ACTN2):c.793G>A (p.Ala265Thr)
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
NM_001103.4(ACTN2):c.905C>T (p.Pro302Leu)
NM_001103.4(ACTN2):c.964G>A (p.Asp322Asn)
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro) rs1240148760
NM_001103.4(ACTN2):c.988C>G (p.His330Asp)

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