ClinVar Miner

List of variants in gene ACTN2 reported as likely benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
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.1155C>T (p.Tyr385=) rs532155333
NM_001103.3(ACTN2):c.1278G>A (p.Gln426=) rs397516565
NM_001103.3(ACTN2):c.1305A>G (p.Thr435=) rs12043223
NM_001103.3(ACTN2):c.1338G>A (p.Ala446=) rs397516566
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
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.1476A>T (p.Arg492=) rs397516569
NM_001103.3(ACTN2):c.1485G>A (p.Thr495=) rs201179281
NM_001103.3(ACTN2):c.1519A>G (p.Met507Val) rs144553482
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.1794G>A (p.Pro598=) rs137890030
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.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.18C>T (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.2052C>T (p.Asn684=) rs202135204
NM_001103.3(ACTN2):c.2148G>A (p.Thr716=) rs191631773
NM_001103.3(ACTN2):c.2235A>G (p.Arg745=) rs141884271
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) rs397516575
NM_001103.3(ACTN2):c.2484C>T (p.Ala828=) rs397516576
NM_001103.3(ACTN2):c.2506C>A (p.Arg836=) rs727502887
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.2643C>T (p.Tyr881=) rs727505177
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.2676C>T (p.Ser892=) rs397516578
NM_001103.3(ACTN2):c.324C>A (p.Ala108=) rs727502885
NM_001103.3(ACTN2):c.354C>T (p.Gly118=) rs539250948
NM_001103.3(ACTN2):c.48G>A (p.Glu16=) rs397516580
NM_001103.3(ACTN2):c.615+15C>T rs369293885
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.786C>T (p.Ala262=) rs201636760
NM_001103.3(ACTN2):c.795G>A (p.Ala265=) rs757253639
NM_001103.3(ACTN2):c.927C>T (p.Pro309=) rs145411160
NM_001103.3(ACTN2):c.93C>T (p.Leu31=) rs397516586

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