ClinVar Miner

List of variants in gene ACTN2 reported as likely benign for Cardiovascular phenotype

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Gene type:
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Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=) rs34263845 0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val) rs144553482 0.00048
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001103.4(ACTN2):c.1293G>A (p.Ser431=) rs144819985 0.00019
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143 0.00018
NM_001103.4(ACTN2):c.186C>T (p.Ile62=) rs34403480 0.00016
NM_001103.4(ACTN2):c.1983C>T (p.Ala661=) rs372137571 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001103.4(ACTN2):c.154C>T (p.Leu52=) rs199910162 0.00008
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_001103.4(ACTN2):c.969C>T (p.Phe323=) rs200247458 0.00006
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=) rs397516569 0.00005
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=) rs201179281 0.00005
NM_001103.4(ACTN2):c.1773C>G (p.Ile591Met) rs771302220 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=) rs201700660 0.00004
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=) rs397516575 0.00004
NM_001103.4(ACTN2):c.2658C>T (p.Ser886=) rs143297401 0.00004
NM_001103.4(ACTN2):c.48G>A (p.Glu16=) rs397516580 0.00004
NM_001103.4(ACTN2):c.777G>A (p.Ala259=) rs764583678 0.00004
NM_001103.4(ACTN2):c.795G>A (p.Ala265=) rs757253639 0.00004
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 0.00003
NM_001103.4(ACTN2):c.1395G>A (p.Ala465=) rs750674913 0.00003
NM_001103.4(ACTN2):c.1671G>A (p.Ala557=) rs772691130 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001103.4(ACTN2):c.241+4G>A rs561826525 0.00003
NM_001103.4(ACTN2):c.2560C>T (p.Leu854=) rs370992948 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.645C>T (p.Ala215=) rs781683654 0.00003
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=) rs532155333 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001103.4(ACTN2):c.1731C>T (p.Ala577=) rs750405065 0.00002
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=) rs189019392 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.66G>A (p.Gln22=) rs761544833 0.00002
NM_001103.4(ACTN2):c.771G>A (p.Ala257=) rs201545916 0.00002
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1236G>A (p.Thr412=) rs143566058 0.00001
NM_001103.4(ACTN2):c.1284T>C (p.Asp428=) rs769334150 0.00001
NM_001103.4(ACTN2):c.1290G>A (p.Glu430=) rs765911535 0.00001
NM_001103.4(ACTN2):c.1323G>A (p.Leu441=) rs886039127 0.00001
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=) rs397516566 0.00001
NM_001103.4(ACTN2):c.1359G>A (p.Ala453=) rs780174131 0.00001
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=) rs368615266 0.00001
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=) rs546293678 0.00001
NM_001103.4(ACTN2):c.1707C>T (p.Asp569=) rs773915011 0.00001
NM_001103.4(ACTN2):c.1938C>T (p.Ala646=) rs958797222 0.00001
NM_001103.4(ACTN2):c.2205C>A (p.Ile735=) rs757083123 0.00001
NM_001103.4(ACTN2):c.2232G>A (p.Thr744=) rs144676770 0.00001
NM_001103.4(ACTN2):c.2424C>T (p.Thr808=) rs202204431 0.00001
NM_001103.4(ACTN2):c.2436A>G (p.Gln812=) rs146445537 0.00001
NM_001103.4(ACTN2):c.2661A>C (p.Ala887=) rs760091931 0.00001
NM_001103.4(ACTN2):c.2667C>T (p.Tyr889=) rs560852363 0.00001
NM_001103.4(ACTN2):c.537-4G>A rs1282585643 0.00001
NM_001103.4(ACTN2):c.570C>A (p.Ile190=) rs762515240 0.00001
NM_001103.4(ACTN2):c.774C>T (p.Gly258=) rs776005605 0.00001
NM_001103.4(ACTN2):c.987G>A (p.Lys329=) rs1185341467 0.00001
NM_001103.4(ACTN2):c.1056G>A (p.Leu352=) rs2102922642
NM_001103.4(ACTN2):c.1062C>T (p.Ile354=)
NM_001103.4(ACTN2):c.1089C>G (p.Ser363=)
NM_001103.4(ACTN2):c.1212G>A (p.Glu404=)
NM_001103.4(ACTN2):c.1215G>A (p.Lys405=) rs1057522332
NM_001103.4(ACTN2):c.1245T>G (p.Thr415=)
NM_001103.4(ACTN2):c.1272G>A (p.Leu424=) rs1060504998
NM_001103.4(ACTN2):c.1302G>T (p.Leu434=) rs2102929881
NM_001103.4(ACTN2):c.1311G>A (p.Val437=) rs886038902
NM_001103.4(ACTN2):c.1335G>A (p.Glu445=)
NM_001103.4(ACTN2):c.1359G>C (p.Ala453=) rs780174131
NM_001103.4(ACTN2):c.1416C>T (p.Asp472=)
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1434T>C (p.Asn478=)
NM_001103.4(ACTN2):c.1444C>A (p.Arg482=)
NM_001103.4(ACTN2):c.1485G>C (p.Thr495=)
NM_001103.4(ACTN2):c.1623T>C (p.Asp541=)
NM_001103.4(ACTN2):c.1665C>T (p.Ile555=)
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.1719G>A (p.Gln573=) rs763585604
NM_001103.4(ACTN2):c.1740C>T (p.Asn580=) rs3738546
NM_001103.4(ACTN2):c.1769A>G (p.Asn590Ser)
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001103.4(ACTN2):c.1797C>T (p.Tyr599=) rs1553303873
NM_001103.4(ACTN2):c.1818G>A (p.Glu606=)
NM_001103.4(ACTN2):c.1842G>C (p.Val614=)
NM_001103.4(ACTN2):c.1858A>G (p.Ile620Val) rs1659474887
NM_001103.4(ACTN2):c.1890T>A (p.Ala630=)
NM_001103.4(ACTN2):c.1893C>A (p.Arg631=)
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.2001C>T (p.Ile667=)
NM_001103.4(ACTN2):c.2040G>A (p.Gln680=)
NM_001103.4(ACTN2):c.2106C>A (p.Ile702=)
NM_001103.4(ACTN2):c.2181G>T (p.Leu727=) rs878854173
NM_001103.4(ACTN2):c.2292C>T (p.His764=)
NM_001103.4(ACTN2):c.231A>G (p.Glu77=)
NM_001103.4(ACTN2):c.242-4A>T
NM_001103.4(ACTN2):c.2466G>A (p.Thr822=) rs746365850
NM_001103.4(ACTN2):c.2484C>G (p.Ala828=)
NM_001103.4(ACTN2):c.255C>G (p.Pro85=)
NM_001103.4(ACTN2):c.2577C>G (p.Ala859=)
NM_001103.4(ACTN2):c.2587A>G (p.Ile863Val) rs397516577
NM_001103.4(ACTN2):c.2616A>G (p.Pro872=) rs1572153472
NM_001103.4(ACTN2):c.285C>T (p.His95=)
NM_001103.4(ACTN2):c.303C>T (p.Asn101=)
NM_001103.4(ACTN2):c.333G>A (p.Gly111=)
NM_001103.4(ACTN2):c.340C>T (p.Leu114=)
NM_001103.4(ACTN2):c.414C>T (p.Ile138=) rs1572114654
NM_001103.4(ACTN2):c.423T>C (p.Phe141=)
NM_001103.4(ACTN2):c.510T>C (p.Asn170=) rs1572120135
NM_001103.4(ACTN2):c.528C>T (p.Phe176=) rs2102904360
NM_001103.4(ACTN2):c.549C>T (p.Gly183=) rs1060504997
NM_001103.4(ACTN2):c.570C>T (p.Ile190=) rs762515240
NM_001103.4(ACTN2):c.582G>T (p.Arg194=) rs767283256
NM_001103.4(ACTN2):c.630A>G (p.Gly210=)
NM_001103.4(ACTN2):c.667C>T (p.Leu223=) rs778336485
NM_001103.4(ACTN2):c.711C>G (p.Thr237=)
NM_001103.4(ACTN2):c.711C>T (p.Thr237=)
NM_001103.4(ACTN2):c.741G>T (p.Thr247=)
NM_001103.4(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.4(ACTN2):c.834G>A (p.Glu278=) rs1658904821
NM_001103.4(ACTN2):c.879T>G (p.Leu293=)
NM_001103.4(ACTN2):c.894T>C (p.Arg298=) rs2102922372
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.4(ACTN2):c.919C>A (p.Arg307=) rs752782663

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