ClinVar Miner

List of variants in gene ACTN2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP
NC_000001.11:g.236686164C>T
NC_000001.11:g.236735384del
NC_000001.11:g.236736600del
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.1046A>T (p.Gln349Leu) rs376335356
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.1107+123T>C
NM_001103.3(ACTN2):c.1107+33A>C
NM_001103.3(ACTN2):c.1108-247T>C
NM_001103.3(ACTN2):c.1108-5C>T rs369956166
NM_001103.3(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092
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.1255+321G>A
NM_001103.3(ACTN2):c.1255+95C>T
NM_001103.3(ACTN2):c.1256-79G>A
NM_001103.3(ACTN2):c.126+14C>T rs373269478
NM_001103.3(ACTN2):c.126+157A>G
NM_001103.3(ACTN2):c.126+331G>C
NM_001103.3(ACTN2):c.1263G>A (p.Glu421=) rs572642643
NM_001103.3(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.3(ACTN2):c.1287C>T (p.Tyr429=) rs764881077
NM_001103.3(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886
NM_001103.3(ACTN2):c.1293G>A (p.Ser431=) rs144819985
NM_001103.3(ACTN2):c.1295C>T (p.Ala432Val) rs767291633
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.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.3(ACTN2):c.1332C>T (p.His444=) rs373709019
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+18C>T rs571362372
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1407-104T>C
NM_001103.3(ACTN2):c.1407-128A>G
NM_001103.3(ACTN2):c.1407-335A>G
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.143G>C (p.Cys48Ser) rs794728959
NM_001103.3(ACTN2):c.1442A>G (p.Asp481Gly) rs1057518451
NM_001103.3(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
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.1492C>T (p.Gln498Ter) rs1553303445
NM_001103.3(ACTN2):c.1515+146G>T
NM_001103.3(ACTN2):c.1515+15C>T rs368107695
NM_001103.3(ACTN2):c.1515+221T>A
NM_001103.3(ACTN2):c.1515+268C>T
NM_001103.3(ACTN2):c.1515+47C>T
NM_001103.3(ACTN2):c.1516-138G>A
NM_001103.3(ACTN2):c.1516-205G>T
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.1656+12G>T rs768816601
NM_001103.3(ACTN2):c.1656+159G>A
NM_001103.3(ACTN2):c.1656+258C>T
NM_001103.3(ACTN2):c.1656+275A>G
NM_001103.3(ACTN2):c.1656+33A>G
NM_001103.3(ACTN2):c.1656+92G>T
NM_001103.3(ACTN2):c.1657-160G>C
NM_001103.3(ACTN2):c.1657-16T>C rs148194175
NM_001103.3(ACTN2):c.1657-194C>T
NM_001103.3(ACTN2):c.1657-204G>A
NM_001103.3(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257
NM_001103.3(ACTN2):c.165C>T (p.Ala55=) rs193922634
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.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.1771A>G (p.Ile591Val) rs377650301
NM_001103.3(ACTN2):c.1794G>A (p.Pro598=) rs137890030
NM_001103.3(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004
NM_001103.3(ACTN2):c.1839+255G>A
NM_001103.3(ACTN2):c.1839+256T>C
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
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.1919G>A (p.Arg640His) rs772909106
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.1946T>C (p.Ile649Thr) rs150825710
NM_001103.3(ACTN2):c.1974+10C>T rs368354944
NM_001103.3(ACTN2):c.1974+136C>T
NM_001103.3(ACTN2):c.1974+13C>T rs758836174
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.1975-314T>C
NM_001103.3(ACTN2):c.1975-6C>A rs201255023
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) rs372137571
NM_001103.3(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739
NM_001103.3(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229
NM_001103.3(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721
NM_001103.3(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572
NM_001103.3(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250
NM_001103.3(ACTN2):c.2056A>C (p.Ile686Leu) rs534607483
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.2082G>C (p.Lys694Asn) rs748034053
NM_001103.3(ACTN2):c.2100G>A (p.Gln700=) rs763184766
NM_001103.3(ACTN2):c.2139G>A (p.Thr713=) rs34975493
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2154+19C>A rs1484623448
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.3(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290
NM_001103.3(ACTN2):c.2210A>C (p.Glu737Ala) rs982200490
NM_001103.3(ACTN2):c.2231C>T (p.Thr744Met) rs765747662
NM_001103.3(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.3(ACTN2):c.2301+28A>G
NM_001103.3(ACTN2):c.2301+66G>T
NM_001103.3(ACTN2):c.2367+108C>T
NM_001103.3(ACTN2):c.2367+210A>G
NM_001103.3(ACTN2):c.2367+301C>A
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2368-169C>A
NM_001103.3(ACTN2):c.2368-17T>C rs78961574
NM_001103.3(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474
NM_001103.3(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574
NM_001103.3(ACTN2):c.241+131C>T
NM_001103.3(ACTN2):c.241+135T>C
NM_001103.3(ACTN2):c.241+302G>T
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.242-84G>A
NM_001103.3(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.3(ACTN2):c.2424C>T (p.Thr808=) rs202204431
NM_001103.3(ACTN2):c.2437T>A (p.Ser813Thr) rs1553305106
NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) rs397516575
NM_001103.3(ACTN2):c.2446G>A (p.Asp816Asn) rs1057522840
NM_001103.3(ACTN2):c.244G>A (p.Glu82Lys) rs139424431
NM_001103.3(ACTN2):c.2475C>T (p.Thr825=) rs758805815
NM_001103.3(ACTN2):c.2480C>G (p.Thr827Ser) rs1057524767
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.2520del (p.Asp841fs) rs794728969
NM_001103.3(ACTN2):c.2526+33A>G
NM_001103.3(ACTN2):c.2526+8T>C rs760086675
NM_001103.3(ACTN2):c.2527-18G>A rs1486613146
NM_001103.3(ACTN2):c.2527-1G>A rs794728966
NM_001103.3(ACTN2):c.2539G>A (p.Ala847Thr) rs1064796605
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.2567C>T (p.Pro856Leu) rs375588211
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.2612G>T (p.Gly871Val) rs370341149
NM_001103.3(ACTN2):c.2630dup (p.Ala878fs) rs1553305291
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.2659G>A (p.Ala887Thr) rs148972050
NM_001103.3(ACTN2):c.2676C>T (p.Ser892=) rs397516578
NM_001103.3(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) rs777124854
NM_001103.3(ACTN2):c.351C>T (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.352G>T (p.Gly118Cys) rs1131691370
NM_001103.3(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.3(ACTN2):c.354C>T (p.Gly118=) rs539250948
NM_001103.3(ACTN2):c.361+96C>T
NM_001103.3(ACTN2):c.362-165T>C
NM_001103.3(ACTN2):c.362-244A>G
NM_001103.3(ACTN2):c.378T>C (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.401T>C (p.Ile134Thr) rs770368711
NM_001103.3(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.448+195G>T
NM_001103.3(ACTN2):c.448+73G>A
NM_001103.3(ACTN2):c.449-122G>C
NM_001103.3(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.3(ACTN2):c.509A>G (p.Asn170Ser) rs1057523249
NM_001103.3(ACTN2):c.517A>G (p.Ile173Val) rs749860792
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.536+223G>A
NM_001103.3(ACTN2):c.536+270G>A
NM_001103.3(ACTN2):c.537-14C>T rs577211083
NM_001103.3(ACTN2):c.537-16C>T rs1057521958
NM_001103.3(ACTN2):c.537-197A>G
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) rs371930065
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103.3(ACTN2):c.620A>G (p.Asp207Gly) rs794728962
NM_001103.3(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
NM_001103.3(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.3(ACTN2):c.690T>A (p.Asp230Glu) rs139489232
NM_001103.3(ACTN2):c.697+33G>A
NM_001103.3(ACTN2):c.698-1009G>A
NM_001103.3(ACTN2):c.698-1068T>C
NM_001103.3(ACTN2):c.698-1302A>G
NM_001103.3(ACTN2):c.698-1428C>T
NM_001103.3(ACTN2):c.698-900T>C
NM_001103.3(ACTN2):c.700A>C (p.Ile234Leu) rs794728963
NM_001103.3(ACTN2):c.703G>A (p.Val235Met) rs754929573
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.745G>A (p.Val249Ile) rs771260546
NM_001103.3(ACTN2):c.770C>T (p.Ala257Val) rs759652494
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.784-404G>A
NM_001103.3(ACTN2):c.784-45A>G
NM_001103.3(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.3(ACTN2):c.795G>A (p.Ala265=) rs757253639
NM_001103.3(ACTN2):c.870G>A (p.Ala290=) rs116464082
NM_001103.3(ACTN2):c.877-238C>T
NM_001103.3(ACTN2):c.877-42C>T
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.877-8C>G rs2288601
NM_001103.3(ACTN2):c.877-99T>C
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.899C>T (p.Thr300Met) rs144025957
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.3(ACTN2):c.926C>T (p.Pro309Leu) rs146568303
NM_001103.3(ACTN2):c.927C>T (p.Pro309=) rs145411160
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.969C>T (p.Phe323=) rs200247458
NM_001103.3(ACTN2):c.970C>T (p.Arg324Trp) rs747674727
NM_001278343.2(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs) rs1553305275

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