ClinVar Miner

List of variants in gene ACTN2 reported as likely benign by Ambry Genetics

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Total variants: 25
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HGVS dbSNP
NM_001103.3(ACTN2):c.1236G>A (p.Thr412=) rs143566058
NM_001103.3(ACTN2):c.1311G>A (p.Val437=) rs886038902
NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) rs886039127
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1519A>G (p.Met507Val) rs144553482
NM_001103.3(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.3(ACTN2):c.1719G>A (p.Gln573=) rs763585604
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) rs372137571
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001103.3(ACTN2):c.2436A>G (p.Gln812=) rs146445537
NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) rs397516575
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.2658C>T (p.Ser886=) rs143297401
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.667C>T (p.Leu223=) rs778336485
NM_001103.3(ACTN2):c.919C>A (p.Arg307=) rs752782663
NM_001103.3(ACTN2):c.927C>T (p.Pro309=) rs145411160
NM_001103.3(ACTN2):c.969C>T (p.Phe323=) rs200247458

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