ClinVar Miner

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

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_001103.3(ACTN2):c.-18C>A rs367979371
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.-43C>G rs200003968
NM_001103.3(ACTN2):c.1089C>T (p.Ser363=) rs397516562
NM_001103.3(ACTN2):c.1108-247T>C
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+95C>T
NM_001103.3(ACTN2):c.1263G>A (p.Glu421=) rs572642643
NM_001103.3(ACTN2):c.1287C>T (p.Tyr429=) rs764881077
NM_001103.3(ACTN2):c.1293G>A (p.Ser431=) rs144819985
NM_001103.3(ACTN2):c.1305A>G (p.Thr435=) rs12043223
NM_001103.3(ACTN2):c.1406+18C>T rs571362372
NM_001103.3(ACTN2):c.1407-335A>G
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.1476A>T (p.Arg492=) rs397516569
NM_001103.3(ACTN2):c.1515+221T>A
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.1657-204G>A
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.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.1839+256T>C
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.18C>T (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1974+136C>T
NM_001103.3(ACTN2):c.1974+13C>T rs758836174
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.2100G>A (p.Gln700=) rs763184766
NM_001103.3(ACTN2):c.2154+19C>A rs1484623448
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2301+66G>T
NM_001103.3(ACTN2):c.2368-169C>A
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.2527-18G>A rs1486613146
NM_001103.3(ACTN2):c.2541G>A (p.Ala847=) rs374278766
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
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.2676C>T (p.Ser892=) rs397516578
NM_001103.3(ACTN2):c.354C>T (p.Gly118=) rs539250948
NM_001103.3(ACTN2):c.536+223G>A
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.615+15C>T rs369293885
NM_001103.3(ACTN2):c.698-1009G>A
NM_001103.3(ACTN2):c.777G>A (p.Ala259=) rs764583678
NM_001103.3(ACTN2):c.783+17C>T rs780669106
NM_001103.3(ACTN2):c.784-45A>G
NM_001103.3(ACTN2):c.795G>A (p.Ala265=) rs757253639
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
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.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.969C>T (p.Phe323=) rs200247458

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