ClinVar Miner

List of variants in gene ACTN2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.698-1302A>G rs707203 0.99986
NM_001103.4(ACTN2):c.242-84G>A rs1341865 0.99335
NM_001103.4(ACTN2):c.362-165T>C rs1768053 0.99159
NM_001103.4(ACTN2):c.537-197A>G rs1768056 0.96506
NM_001103.4(ACTN2):c.698-900T>C rs819643 0.94103
NM_001103.4(ACTN2):c.1975-314T>C rs2297861 0.93469
NM_001103.4(ACTN2):c.448+73G>A rs1341862 0.93228
NM_001103.4(ACTN2):c.1516-138G>A rs2297956 0.90550
NM_001103.4(ACTN2):c.362-244A>G rs1773444 0.90354
NM_001103.4(ACTN2):c.448+195G>T rs1341861 0.89015
NM_001103.4(ACTN2):c.2526+33A>G rs2282366 0.85706
NM_001103.4(ACTN2):c.2367+301C>A rs4348712 0.82023
NM_001103.4(ACTN2):c.1516-205G>T rs3818884 0.80005
NM_001103.4(ACTN2):c.1839+255G>A rs4659713 0.79962
NM_001103.4(ACTN2):c.1657-160G>C rs3738545 0.65266
NM_001103.4(ACTN2):c.1657-194C>T rs3738544 0.65203
NM_001103.4(ACTN2):c.1656+275A>G rs4659712 0.51441
NM_001103.4(ACTN2):c.2367+210A>G rs10925223 0.51094
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_001103.4(ACTN2):c.1107+123T>C rs7544174 0.50675
NM_001103.4(ACTN2):c.1107+33A>C rs2288602 0.50667
NM_001103.4(ACTN2):c.2526+267T>C rs72762104 0.49885
NM_001103.4(ACTN2):c.241+131C>T rs2275399 0.45532
NM_001103.4(ACTN2):c.784-404G>A rs7542508 0.44307
NM_001103.4(ACTN2):c.877-238C>T rs4659711 0.43293
NM_001103.4(ACTN2):c.697+33G>A rs819640 0.39452
NM_001103.4(ACTN2):c.126+157A>G rs12046163 0.38965
NM_001103.4(ACTN2):c.1407-104T>C rs10802557 0.27911
NM_001103.4(ACTN2):c.1515+268C>T rs10802558 0.17838
NM_001103.4(ACTN2):c.783+22G>A rs2288600 0.15846
NM_001103.4(ACTN2):c.1656+33A>G rs2297955 0.14350
NM_001103.4(ACTN2):c.126+331G>C rs644401 0.12208
NM_001103.4(ACTN2):c.1656+92G>T rs3818883 0.11136
NM_001103.4(ACTN2):c.698-1068T>C rs16834301 0.10210
NM_001103.4(ACTN2):c.1515+146G>T rs79149380 0.08735
NM_001103.4(ACTN2):c.1256-79G>A rs3738543 0.08634
NM_001103.4(ACTN2):c.698-1428C>T rs12569148 0.08594
NM_001103.4(ACTN2):c.2367+108C>T rs12730862 0.08412
NM_001103.4(ACTN2):c.1515+62A>G rs10925211 0.08118
NM_001103.4(ACTN2):c.1255+321G>A rs12737976 0.06434
NM_001103.4(ACTN2):c.241+135T>C rs10925203 0.05665
NM_001103.4(ACTN2):c.241+302G>T rs34397827 0.05381
NM_001103.4(ACTN2):c.2301+248A>G rs4659467 0.05279
NM_001103.4(ACTN2):c.449-122G>C rs12081658 0.05024
NM_001103.4(ACTN2):c.1656+258C>T rs76505998 0.04956
NM_001103.4(ACTN2):c.361+96C>T rs41269355 0.04910
NM_001103.4(ACTN2):c.1515+47C>T rs79971593 0.04341
NM_001103.4(ACTN2):c.1407-128A>G rs75222641 0.04334
NM_001103.4(ACTN2):c.783+681G>A rs3768124 0.04082
NM_001103.4(ACTN2):c.362-256C>T rs61643696 0.03998
NM_001103.2(ACTN2):c.-510C>T rs75163151 0.03985
NM_001103.4(ACTN2):c.615+205G>A rs12136869 0.03511
NM_001103.4(ACTN2):c.1656+159G>A rs112529745 0.02922
NM_001103.4(ACTN2):c.876+85A>T rs547374091 0.02574
NM_001103.4(ACTN2):c.536+270G>A rs74146240 0.02389
NM_001103.4(ACTN2):c.1406+68T>C rs78539646 0.02356
NM_001103.4(ACTN2):c.2301+28A>G rs114906297 0.02171
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.877-99T>C rs11807254 0.01894
NM_001103.4(ACTN2):c.2155-245T>A rs11800182 0.01740
NM_001103.4(ACTN2):c.1974+136C>T rs149269755 0.01630
NM_001103.4(ACTN2):c.2154+246C>A rs78966891 0.01630
NM_001103.4(ACTN2):c.784-157T>A rs79354622 0.01603
NM_001103.4(ACTN2):c.698-1009G>A rs75131881 0.01394
NM_001103.4(ACTN2):c.1255+95C>T rs78951895 0.01149
NM_001103.4(ACTN2):c.1515+221T>A rs74890470 0.01142
NM_001103.4(ACTN2):c.536+223G>A rs77599478 0.01107
NM_001103.4(ACTN2):c.127-271A>G rs112687055 0.01082
NM_001103.4(ACTN2):c.2368-25A>T rs113776296 0.01033
NM_001103.4(ACTN2):c.784-45A>G rs12086403 0.00920
NM_001103.4(ACTN2):c.1256-115C>G rs75321354 0.00788
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001103.4(ACTN2):c.783+578T>C rs145866968 0.00689
NM_001103.4(ACTN2):c.1840-211T>C rs192924545 0.00630
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.1657-204G>A rs115709068 0.00561
NM_001103.4(ACTN2):c.2368-310C>T rs114605512 0.00493
NM_001103.4(ACTN2):c.1108-247T>C rs181146815 0.00478
NM_001103.4(ACTN2):c.876+222C>T rs150832018 0.00465
NM_001103.4(ACTN2):c.*46C>T rs74146254 0.00460
NM_001103.4(ACTN2):c.1255+281T>C rs75192899 0.00460
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001103.4(ACTN2):c.2368-169C>A rs111935712 0.00396
NM_001103.4(ACTN2):c.*396G>A rs181994486 0.00359
NM_001103.4(ACTN2):c.1407-335A>G rs79683418 0.00353
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001103.4(ACTN2):c.2301+66G>T rs115838741 0.00310
NM_001103.4(ACTN2):c.1108-301G>T rs143711730 0.00309
NM_001103.4(ACTN2):c.1974+60G>A rs114244088 0.00269
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.*1969C>T rs753897286 0.00120
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.1657-16T>C rs148194175 0.00095
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.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001103.4(ACTN2):c.2155-31A>G rs199568000 0.00067
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.1975-12C>T rs371352710 0.00036
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
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.1235C>T (p.Thr412Met) rs139515659 0.00025
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.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.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.1983C>T (p.Ala661=) rs372137571 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=) rs191631773 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
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.1698C>T (p.Pro566=) rs148961019 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 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.127-3C>A rs368775036 0.00005
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.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.517A>G (p.Ile173Val) rs749860792 0.00005
NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 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.2446G>A (p.Asp816Asn) rs1057522840 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.48G>A (p.Glu16=) rs397516580 0.00004
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.1180C>T (p.Arg394Trp) rs559395092 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1407-9T>C rs1019401703 0.00003
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612 0.00003
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr) rs371954663 0.00003
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser) rs1384783399 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 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.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.2003C>G (p.Thr668Arg) rs397516572 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.241+4G>A rs561826525 0.00003
NM_001103.4(ACTN2):c.2425G>A (p.Val809Ile) rs551605384 0.00003
NM_001103.4(ACTN2):c.2507G>A (p.Arg836Gln) rs764315978 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.2560C>T (p.Leu854=) rs370992948 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser) rs769980647 0.00002
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=) rs532155333 0.00002
NM_001103.4(ACTN2):c.1256-8C>T rs747638397 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 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.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 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.265C>T (p.Arg89Trp) rs369629689 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 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.762C>T (p.His254=) rs397516584 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.784-525G>A rs1040815384 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 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.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1236G>A (p.Thr412=) rs143566058 0.00001
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 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.1337C>T (p.Ala446Val) rs767041933 0.00001
NM_001103.4(ACTN2):c.1418A>G (p.Tyr473Cys) rs957128342 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1552C>T (p.His518Tyr) rs573836993 0.00001
NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) rs200143657 0.00001
NM_001103.4(ACTN2):c.1656+16C>T rs1659326562 0.00001
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser) rs758034866 0.00001
NM_001103.4(ACTN2):c.1789A>C (p.Asn597His) rs1262131275 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.1852G>A (p.Val618Met) rs1178612038 0.00001
NM_001103.4(ACTN2):c.193G>A (p.Asp65Asn) rs781118555 0.00001
NM_001103.4(ACTN2):c.1945A>G (p.Ile649Val) rs759422747 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.1985G>A (p.Arg662Gln) rs764931229 0.00001
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721 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.2210A>C (p.Glu737Ala) rs982200490 0.00001
NM_001103.4(ACTN2):c.2252C>T (p.Thr751Ile) rs140836849 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.244G>A (p.Glu82Lys) rs139424431 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) rs372348405 0.00001
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=) rs397516576 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.2594G>C (p.Arg865Thr) rs752937110 0.00001
NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) rs370341149 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2661A>C (p.Ala887=) rs760091931 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001103.4(ACTN2):c.698-1179G>A rs1317190224 0.00001
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr) rs574401232 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.970C>T (p.Arg324Trp) rs747674727 0.00001
NC_000001.11:g.236686477C>A rs980228032
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001103.4(ACTN2):c.1009G>A (p.Glu337Lys) rs760884869
NM_001103.4(ACTN2):c.1055T>A (p.Leu352Gln)
NM_001103.4(ACTN2):c.107G>A (p.Trp36Ter) rs2102851395
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1108-230C>T rs150572226
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly) rs376144003
NM_001103.4(ACTN2):c.1167_1169delinsA (p.Leu390fs) rs2102927408
NM_001103.4(ACTN2):c.1216T>G (p.Phe406Val) rs1572135580
NM_001103.4(ACTN2):c.1237C>G (p.His413Asp)
NM_001103.4(ACTN2):c.1256-9C>G
NM_001103.4(ACTN2):c.1272G>A (p.Leu424=) rs1060504998
NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.4(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.4(ACTN2):c.133A>G (p.Thr45Ala) rs1658267493
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.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1433A>G (p.Asn478Ser) rs753244692
NM_001103.4(ACTN2):c.1437C>G (p.Val479=) rs1572140071
NM_001103.4(ACTN2):c.143G>C (p.Cys48Ser) rs794728959
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1470G>C (p.Trp490Cys)
NM_001103.4(ACTN2):c.1492C>T (p.Gln498Ter) rs1553303445
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001103.4(ACTN2):c.1516-10T>C rs1572141263
NM_001103.4(ACTN2):c.1522G>A (p.Glu508Lys)
NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.4(ACTN2):c.1579C>T (p.Pro527Ser) rs745651013
NM_001103.4(ACTN2):c.1657-243dup rs141984611
NM_001103.4(ACTN2):c.1657-29_1657-26del rs140875513
NM_001103.4(ACTN2):c.1657-6G>A rs1328857189
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.1740C>T (p.Asn580=) rs3738546
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys) rs1398504608
NM_001103.4(ACTN2):c.1745T>C (p.Val582Ala) rs1572143387
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.4(ACTN2):c.1793del (p.Pro598fs) rs1553303871
NM_001103.4(ACTN2):c.1839+256T>C rs150715956
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg) rs1173244523
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.1984C>G (p.Arg662Gly) rs150021739
NM_001103.4(ACTN2):c.200G>A (p.Arg67Lys) rs1658270003
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2054T>A (p.Ile685Asn) rs1057523250
NM_001103.4(ACTN2):c.2056A>C (p.Ile686Leu) rs534607483
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2155-322T>G rs12060067
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2168G>A (p.Gly723Glu)
NM_001103.4(ACTN2):c.2224A>T (p.Ile742Phe)
NM_001103.4(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.4(ACTN2):c.2301+1G>T rs113380434
NM_001103.4(ACTN2):c.2309A>G (p.Asn770Ser)
NM_001103.4(ACTN2):c.2336G>A (p.Arg779Lys) rs779870295
NM_001103.4(ACTN2):c.2367+109G>A rs115264842
NM_001103.4(ACTN2):c.2395A>G (p.Thr799Ala)
NM_001103.4(ACTN2):c.2419G>C (p.Gly807Arg) rs200282066
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2437T>A (p.Ser813Thr) rs1553305106
NM_001103.4(ACTN2):c.2467G>T (p.Ala823Ser) rs2102951725
NM_001103.4(ACTN2):c.2480C>G (p.Thr827Ser) rs1057524767
NM_001103.4(ACTN2):c.250C>T (p.Leu84=) rs1558232391
NM_001103.4(ACTN2):c.2520del (p.Asp841fs) rs794728969
NM_001103.4(ACTN2):c.2526+260GT[10] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[14] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[15] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[16] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[17] rs3831321
NM_001103.4(ACTN2):c.2527-1G>A rs794728966
NM_001103.4(ACTN2):c.2539G>A (p.Ala847Thr) rs1064796605
NM_001103.4(ACTN2):c.2557_2569del (p.Glu853fs)
NM_001103.4(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs) rs1553305275
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.2630dup (p.Ala878fs) rs1553305291
NM_001103.4(ACTN2):c.2678A>T (p.Asp893Val) rs199920384
NM_001103.4(ACTN2):c.281T>C (p.Phe94Ser) rs1572113430
NM_001103.4(ACTN2):c.343G>C (p.Val115Leu) rs397516579
NM_001103.4(ACTN2):c.346_347delinsAT (p.Ser116Ile) rs2102894956
NM_001103.4(ACTN2):c.352G>A (p.Gly118Ser) rs1131691370
NM_001103.4(ACTN2):c.352G>T (p.Gly118Cys) rs1131691370
NM_001103.4(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.4(ACTN2):c.373G>A (p.Gly125Ser)
NM_001103.4(ACTN2):c.394_395delinsCT (p.Gly132Leu) rs2102896537
NM_001103.4(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.4(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.4(ACTN2):c.449-290dup rs5781923
NM_001103.4(ACTN2):c.449-292_449-290del rs5781923
NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.509A>G (p.Asn170Ser) rs1057523249
NM_001103.4(ACTN2):c.510T>C (p.Asn170=) rs1572120135
NM_001103.4(ACTN2):c.537-161_537-159del rs147735389
NM_001103.4(ACTN2):c.579C>G (p.His193Gln)
NM_001103.4(ACTN2):c.620A>G (p.Asp207Gly) rs794728962
NM_001103.4(ACTN2):c.644C>T (p.Ala215Val) rs1658705084
NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
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.698-1180C>T
NM_001103.4(ACTN2):c.698-248del rs143344656
NM_001103.4(ACTN2):c.700A>C (p.Ile234Leu) rs794728963
NM_001103.4(ACTN2):c.721G>A (p.Asp241Asn) rs1342620732
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.770C>T (p.Ala257Val) rs759652494
NM_001103.4(ACTN2):c.784-2A>G rs794728964
NM_001103.4(ACTN2):c.784-472A>C
NM_001103.4(ACTN2):c.784-478G>T
NM_001103.4(ACTN2):c.784-493T>C rs1658885457
NM_001103.4(ACTN2):c.784-518del rs11355106
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.796del (p.Ala266fs) rs2102919122
NM_001103.4(ACTN2):c.820G>C (p.Ala274Pro)
NM_001103.4(ACTN2):c.82C>A (p.Arg28Ser) rs730880040
NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)
NM_001103.4(ACTN2):c.876+104_876+105insATATGTAT rs1428788821
NM_001103.4(ACTN2):c.876+40C>T rs148335592
NM_001103.4(ACTN2):c.876+84C>T rs7521191
NM_001103.4(ACTN2):c.876+85AT[11] rs67318171
NM_001103.4(ACTN2):c.877-2A>G
NM_001103.4(ACTN2):c.877-42C>G rs7527525
NM_001103.4(ACTN2):c.877-42C>T rs7527525
NM_001103.4(ACTN2):c.877-59_877-58del rs34704730
NM_001103.4(ACTN2):c.877-8_877-6delinsGGA rs2102922339
NM_001103.4(ACTN2):c.902T>A (p.Ile301Asn) rs766129106
NM_001103.4(ACTN2):c.905C>T (p.Pro302Leu)
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.4(ACTN2):c.934A>T (p.Thr312Ser) rs2102922477
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
NM_001103.4(ACTN2):c.938T>C (p.Met313Thr)
NM_001103.4(ACTN2):c.980G>C (p.Arg327Pro)

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