ClinVar Miner

List of variants in gene ACTN2 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.*526T>C rs1803032 0.67316
NM_001103.4(ACTN2):c.*447C>G rs1051253 0.51370
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_001103.4(ACTN2):c.*748A>G rs7522310 0.49528
NM_001103.4(ACTN2):c.*724G>C rs7532533 0.18973
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.*954G>A rs2153203 0.05552
NM_001103.4(ACTN2):c.*700A>G rs12733179 0.04737
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.*423A>G rs114880747 0.02581
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.*1087G>A rs11801672 0.01019
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_001103.4(ACTN2):c.*46C>T rs74146254 0.00460
NM_001103.4(ACTN2):c.*396G>A rs181994486 0.00359
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.*1040G>A rs190412319 0.00167
NM_001103.4(ACTN2):c.*1969C>T rs753897286 0.00120
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
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.1519A>G (p.Met507Val) rs144553482 0.00048
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001103.4(ACTN2):c.*551G>A rs566548706 0.00047
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.1406+8C>T rs397516567 0.00026
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.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143 0.00018
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.*128G>A rs142016713 0.00013
NM_001103.3(ACTN2):c.-223C>T rs951644250 0.00012
NM_001103.4(ACTN2):c.*1109C>T rs759273956 0.00011
NM_001103.4(ACTN2):c.*1704C>T rs924162671 0.00010
NM_001103.4(ACTN2):c.*106A>G rs1032334316 0.00009
NM_001103.4(ACTN2):c.*1288T>G rs886046212 0.00009
NM_001103.4(ACTN2):c.*1651G>T rs764609669 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001103.4(ACTN2):c.*1001T>A rs902731297 0.00007
NM_001103.4(ACTN2):c.*1274_*1275del rs771809993 0.00007
NM_001103.4(ACTN2):c.*1645C>G rs577833572 0.00007
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_001103.4(ACTN2):c.*1259G>A rs923309936 0.00005
NM_001103.4(ACTN2):c.*43A>C rs758068136 0.00005
NM_001103.4(ACTN2):c.*157C>T rs184479165 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.777G>A (p.Ala259=) rs764583678 0.00004
NM_001103.4(ACTN2):c.*1301T>C rs886046213 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.645C>T (p.Ala215=) rs781683654 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001103.4(ACTN2):c.*1273C>T rs886046211 0.00002
NM_001103.4(ACTN2):c.*641C>T rs1298748522 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 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.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys) rs769485633 0.00002
NM_001103.4(ACTN2):c.*1116G>A rs548189072 0.00001
NM_001103.4(ACTN2):c.*488A>C rs1017812616 0.00001
NM_001103.4(ACTN2):c.*886T>G rs886046208 0.00001
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1238A>T (p.His413Leu) rs763060410 0.00001
NM_001103.4(ACTN2):c.1323G>A (p.Leu441=) rs886039127 0.00001
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser) rs758034866 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.2241G>A (p.Ala747=) rs767011628 0.00001
NM_001103.4(ACTN2):c.2334C>T (p.Phe778=) rs1270492588 0.00001
NM_001103.4(ACTN2):c.*1097G>A rs886046209
NM_001103.4(ACTN2):c.*1253G>T rs886046210
NM_001103.4(ACTN2):c.*1703C>T rs553741232
NM_001103.4(ACTN2):c.*286T>C rs190536248
NM_001103.4(ACTN2):c.*848C>G rs1659767113
NM_001103.4(ACTN2):c.*899A>G rs1314796145
NM_001103.4(ACTN2):c.*911A>G rs762530976
NM_001103.4(ACTN2):c.*979C>A rs181615071
NM_001103.4(ACTN2):c.-104C>A rs886046202
NM_001103.4(ACTN2):c.-159C>T rs886046201
NM_001103.4(ACTN2):c.-7G>A rs370646112
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr) rs886046206
NM_001103.4(ACTN2):c.122G>A (p.Arg41Lys) rs781746567
NM_001103.4(ACTN2):c.126+15G>C rs745563404
NM_001103.4(ACTN2):c.1370G>A (p.Arg457His) rs781559530
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1426G>T (p.Ala476Ser) rs142943120
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1944C>T (p.Ala648=) rs1659479073
NM_001103.4(ACTN2):c.2065A>G (p.Lys689Glu) rs758071137
NM_001103.4(ACTN2):c.2201C>T (p.Thr734Ile) rs886046207
NM_001103.4(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.4(ACTN2):c.352G>A (p.Gly118Ser) rs1131691370
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265

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