ClinVar Miner

List of variants in gene ACTN2 studied for not specified

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Gene type:
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Total variants: 171
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HGVS dbSNP
NM_001103.3(ACTN2):c.*3C>T rs1131691800
NM_001103.3(ACTN2):c.-18C>A rs367979371
NM_001103.3(ACTN2):c.-22C>T rs138279482
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.-43C>G rs200003968
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181
NM_001103.3(ACTN2):c.1089C>T (p.Ser363=) rs397516562
NM_001103.3(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.3(ACTN2):c.1108-10A>G rs397516564
NM_001103.3(ACTN2):c.1108-3C>T rs372488913
NM_001103.3(ACTN2):c.1108-5C>T rs369956166
NM_001103.3(ACTN2):c.1155C>T (p.Tyr385=) rs532155333
NM_001103.3(ACTN2):c.1215G>A (p.Lys405=) rs1057522332
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1236G>A (p.Thr412=) rs143566058
NM_001103.3(ACTN2):c.1255+15G>A rs752986074
NM_001103.3(ACTN2):c.126+14C>T rs373269478
NM_001103.3(ACTN2):c.1263G>A (p.Glu421=) rs572642643
NM_001103.3(ACTN2):c.1278G>A (p.Gln426=) rs397516565
NM_001103.3(ACTN2):c.1293G>A (p.Ser431=) rs144819985
NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) rs35956798
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1305A>G (p.Thr435=) rs12043223
NM_001103.3(ACTN2):c.1332C>T (p.His444=) rs373709019
NM_001103.3(ACTN2):c.1338G>A (p.Ala446=) rs397516566
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.3(ACTN2):c.1361A>C (p.His454Pro) rs727505063
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1381A>G (p.Ile461Val) rs876657742
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220
NM_001103.3(ACTN2):c.1406+18C>T rs571362372
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1411C>G (p.Leu471Val) rs397516568
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1425C>T (p.Asp475=) rs148223734
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1442A>G (p.Asp481Gly) rs1057518451
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1460G>T (p.Cys487Phe) rs727504619
NM_001103.3(ACTN2):c.1476A>T (p.Arg492=) rs397516569
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.1485G>A (p.Thr495=) rs201179281
NM_001103.3(ACTN2):c.1515+15C>T rs368107695
NM_001103.3(ACTN2):c.1519A>G (p.Met507Val) rs144553482
NM_001103.3(ACTN2):c.153C>T (p.His51=) rs1057523501
NM_001103.3(ACTN2):c.1557G>A (p.Leu519=) rs1057523732
NM_001103.3(ACTN2):c.1593G>A (p.Trp531Ter) rs397516570
NM_001103.3(ACTN2):c.1656+12G>T rs768816601
NM_001103.3(ACTN2):c.1657-16T>C rs148194175
NM_001103.3(ACTN2):c.165C>T (p.Ala55Ala=) rs193922634
NM_001103.3(ACTN2):c.1691C>T (p.Thr564Met) rs876661341
NM_001103.3(ACTN2):c.1698C>T (p.Pro566=) rs148961019
NM_001103.3(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.3(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971
NM_001103.3(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718
NM_001103.3(ACTN2):c.1723A>C (p.Ile575Leu) rs756815410
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
NM_001103.3(ACTN2):c.1749G>A (p.Glu583=) rs748367953
NM_001103.3(ACTN2):c.1761G>A (p.Gln587=) rs770066690
NM_001103.3(ACTN2):c.1794G>A (p.Pro598=) rs137890030
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571
NM_001103.3(ACTN2):c.1839+5G>C rs797045081
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.186C>T (p.Ile62=) rs34403480
NM_001103.3(ACTN2):c.1899T>G (p.His633Gln) rs727505112
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.18C>T (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600
NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.1974+10C>T rs368354944
NM_001103.3(ACTN2):c.1974+13C>T rs758836174
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.1975-6C>A rs201255023
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739
NM_001103.3(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572
NM_001103.3(ACTN2):c.2052C>T (p.Asn684=) rs202135204
NM_001103.3(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001103.3(ACTN2):c.2100G>A (p.Gln700=) rs763184766
NM_001103.3(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426
NM_001103.3(ACTN2):c.2139G>A (p.Thr713Thr=) rs34975493
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2148G>A (p.Thr716=) rs191631773
NM_001103.3(ACTN2):c.2154+19C>A rs1484623448
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290
NM_001103.3(ACTN2):c.2235A>G (p.Arg745=) rs141884271
NM_001103.3(ACTN2):c.2302-3C>A rs727505174
NM_001103.3(ACTN2):c.2306A>C (p.Lys769Thr) rs397516573
NM_001103.3(ACTN2):c.2323C>T (p.His775Tyr) rs370677725
NM_001103.3(ACTN2):c.2367+5G>A rs200469353
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2368-17T>C rs78961574
NM_001103.3(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574
NM_001103.3(ACTN2):c.241+4G>A rs561826525
NM_001103.3(ACTN2):c.2412C>T (p.Asn804=) rs201700660
NM_001103.3(ACTN2):c.242-6C>T rs1057521158
NM_001103.3(ACTN2):c.2424C>T (p.Thr808=) rs202204431
NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) rs397516575
NM_001103.3(ACTN2):c.2475C>T (p.Thr825=) rs758805815
NM_001103.3(ACTN2):c.2484C>T (p.Ala828=) rs397516576
NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335
NM_001103.3(ACTN2):c.2506C>A (p.Arg836=) rs727502887
NM_001103.3(ACTN2):c.2526+8T>C rs760086675
NM_001103.3(ACTN2):c.2527-18G>A rs1486613146
NM_001103.3(ACTN2):c.2541G>A (p.Ala847=) rs374278766
NM_001103.3(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497
NM_001103.3(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888
NM_001103.3(ACTN2):c.2566_2614del49insGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856Aspfs) rs1553305275
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.2643C>T (p.Tyr881=) rs727505177
NM_001103.3(ACTN2):c.2644G>A (p.Ala882Thr) rs747843638
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050
NM_001103.3(ACTN2):c.2676C>T (p.Ser892=) rs397516578
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.324C>A (p.Ala108=) rs727502885
NM_001103.3(ACTN2):c.343G>A (p.Val115Met) rs397516579
NM_001103.3(ACTN2):c.351C= (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.351C>T (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.354C>T (p.Gly118=) rs539250948
NM_001103.3(ACTN2):c.378T= (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.378T>C (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.48G>A (p.Glu16=) rs397516580
NM_001103.3(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.536+6C>G rs771398006
NM_001103.3(ACTN2):c.537-14C>T rs577211083
NM_001103.3(ACTN2):c.537-16C>T rs1057521958
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.578_583del (p.His193_Arg194del) rs397516581
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103.3(ACTN2):c.616-3C>T rs111464645
NM_001103.3(ACTN2):c.655G>A (p.Ala219Thr) rs1246542277
NM_001103.3(ACTN2):c.690T>A (p.Asp230Glu) rs139489232
NM_001103.3(ACTN2):c.697+1G>A rs113669376
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.706A>G (p.Asn236Asp) rs1193355360
NM_001103.3(ACTN2):c.736A>G (p.Met246Val) rs397516582
NM_001103.3(ACTN2):c.753C>T (p.Cys251=) rs397516583
NM_001103.3(ACTN2):c.762C>T (p.His254=) rs397516584
NM_001103.3(ACTN2):c.777G>A (p.Ala259=) rs764583678
NM_001103.3(ACTN2):c.783+17C>T rs780669106
NM_001103.3(ACTN2):c.783+22G>A rs2288600
NM_001103.3(ACTN2):c.784-2A>G rs794728964
NM_001103.3(ACTN2):c.786C>T (p.Ala262=) rs201636760
NM_001103.3(ACTN2):c.795G>A (p.Ala265=) rs757253639
NM_001103.3(ACTN2):c.826A>G (p.Asn276Asp) rs876657743
NM_001103.3(ACTN2):c.829C>G (p.Gln277Glu) rs1553302181
NM_001103.3(ACTN2):c.870G>A (p.Ala290=) rs116464082
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.877-8C= rs2288601
NM_001103.3(ACTN2):c.877-8C>G rs2288601
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.895C>T (p.Arg299Cys) rs779109533
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.3(ACTN2):c.927C>T (p.Pro309=) rs145411160
NM_001103.3(ACTN2):c.93C>T (p.Leu31=) rs397516586
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.969C>T (p.Phe323=) rs200247458
NM_001278344.1(ACTN2):c.1963A>C (p.Ile655Leu) rs397516577

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