ClinVar Miner

List of variants in gene ACTN2 studied for Hypertrophic cardiomyopathy

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.*526T>C rs1803032 0.67316
NM_001103.4(ACTN2):c.*447C>G rs1051253 0.51370
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_001103.4(ACTN2):c.*748A>G rs7522310 0.49528
NM_001103.4(ACTN2):c.*724G>C rs7532533 0.18973
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.*954G>A rs2153203 0.05552
NM_001103.4(ACTN2):c.*700A>G rs12733179 0.04737
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.*423A>G rs114880747 0.02581
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.*396G>A rs181994486 0.00359
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.*1274_*1275del rs771809993 0.00007
NM_001103.4(ACTN2):c.-3G>T rs201920417 0.00003
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys) rs764031568 0.00001
NM_001103.4(ACTN2):c.-98CGCCGCC[2] rs552471202
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr) rs886046206
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396

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