ClinVar Miner

List of variants in gene ACTN2 reported as benign for Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy

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Total variants: 27
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HGVS dbSNP
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.1341C>T (p.Phe447=) rs34785693
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.1423G>A (p.Asp475Asn) rs80257412
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.1748A>G (p.Glu583Gly) rs200631005
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
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.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.351C>T (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.378T>C (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.870G>A (p.Ala290=) rs116464082
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265

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