ClinVar Miner

List of variants in gene ACTN2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.783+681G>A rs3768124 0.04082
NM_001103.4(ACTN2):c.1656+159G>A rs112529745 0.02922
NM_001103.4(ACTN2):c.1974+136C>T rs149269755 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.783+578T>C rs145866968 0.00689
NM_001103.4(ACTN2):c.1840-211T>C rs192924545 0.00630
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.*46C>T rs74146254 0.00460
NM_001103.4(ACTN2):c.1255+281T>C rs75192899 0.00460
NM_001103.4(ACTN2):c.2368-169C>A rs111935712 0.00396
NM_001103.4(ACTN2):c.1407-335A>G rs79683418 0.00353
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.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
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.546T>C (p.Asp182=) rs34263845 0.00066
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.1484C>T (p.Thr495Met) rs200248944 0.00027
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.1293G>A (p.Ser431=) rs144819985 0.00019
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.615+15C>T rs369293885 0.00014
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.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.1698C>T (p.Pro566=) rs148961019 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.783+17C>T rs780669106 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.537-14C>T rs577211083 0.00005
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=) rs202135204 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.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.-18C>A rs367979371 0.00003
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.1255+15G>A rs752986074 0.00003
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=) rs764881077 0.00003
NM_001103.4(ACTN2):c.1407-9T>C rs1019401703 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.2100G>A (p.Gln700=) rs763184766 0.00003
NM_001103.4(ACTN2):c.241+4G>A rs561826525 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
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.2527-18G>A rs1486613146 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001103.4(ACTN2):c.-43C>G rs200003968 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.1263G>A (p.Glu421=) rs572642643 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.242-6C>T rs1057521158 0.00001
NM_001103.4(ACTN2):c.2424C>T (p.Thr808=) rs202204431 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=) rs397516576 0.00001
NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) rs747843638 0.00001
NM_001103.4(ACTN2):c.537-16C>T rs1057521958 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NC_000001.11:g.236686477C>A rs980228032
NM_001103.4(ACTN2):c.1108-230C>T rs150572226
NM_001103.4(ACTN2):c.1215G>A (p.Lys405=) rs1057522332
NM_001103.4(ACTN2):c.1406+18C>T rs571362372
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.153C>T (p.His51=) rs1057523501
NM_001103.4(ACTN2):c.1557G>A (p.Leu519=) rs1057523732
NM_001103.4(ACTN2):c.1656+12G>T rs768816601
NM_001103.4(ACTN2):c.1657-29_1657-26del rs140875513
NM_001103.4(ACTN2):c.1740C>T (p.Asn580=) rs3738546
NM_001103.4(ACTN2):c.1749G>A (p.Glu583=) rs748367953
NM_001103.4(ACTN2):c.1761G>A (p.Gln587=) rs770066690
NM_001103.4(ACTN2):c.1839+256T>C rs150715956
NM_001103.4(ACTN2):c.1974+13C>T rs758836174
NM_001103.4(ACTN2):c.1975-6C>A rs201255023
NM_001103.4(ACTN2):c.2154+19C>A rs1484623448
NM_001103.4(ACTN2):c.2155-322T>G rs12060067
NM_001103.4(ACTN2):c.2367+109G>A rs115264842
NM_001103.4(ACTN2):c.876+104_876+105insATATGTAT rs1428788821
NM_001103.4(ACTN2):c.876+40C>T rs148335592
NM_001103.4(ACTN2):c.877-8_877-6delinsGGA rs2102922339
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265

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