ClinVar Miner

List of variants in gene ACTN2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.698-1302A>G rs707203 0.99986
NM_001103.4(ACTN2):c.242-84G>A rs1341865 0.99335
NM_001103.4(ACTN2):c.362-165T>C rs1768053 0.99159
NM_001103.4(ACTN2):c.537-197A>G rs1768056 0.96506
NM_001103.4(ACTN2):c.698-900T>C rs819643 0.94103
NM_001103.4(ACTN2):c.1975-314T>C rs2297861 0.93469
NM_001103.4(ACTN2):c.448+73G>A rs1341862 0.93228
NM_001103.4(ACTN2):c.1516-138G>A rs2297956 0.90550
NM_001103.4(ACTN2):c.362-244A>G rs1773444 0.90354
NM_001103.4(ACTN2):c.448+195G>T rs1341861 0.89015
NM_001103.4(ACTN2):c.2526+33A>G rs2282366 0.85706
NM_001103.4(ACTN2):c.2367+301C>A rs4348712 0.82023
NM_001103.4(ACTN2):c.1516-205G>T rs3818884 0.80005
NM_001103.4(ACTN2):c.1839+255G>A rs4659713 0.79962
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.1657-160G>C rs3738545 0.65266
NM_001103.4(ACTN2):c.1657-194C>T rs3738544 0.65203
NM_001103.4(ACTN2):c.1656+275A>G rs4659712 0.51441
NM_001103.4(ACTN2):c.2367+210A>G rs10925223 0.51094
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_001103.4(ACTN2):c.1107+123T>C rs7544174 0.50675
NM_001103.4(ACTN2):c.1107+33A>C rs2288602 0.50667
NM_001103.4(ACTN2):c.2526+267T>C rs72762104 0.49885
NM_001103.4(ACTN2):c.241+131C>T rs2275399 0.45532
NM_001103.4(ACTN2):c.784-404G>A rs7542508 0.44307
NM_001103.4(ACTN2):c.877-238C>T rs4659711 0.43293
NM_001103.4(ACTN2):c.697+33G>A rs819640 0.39452
NM_001103.4(ACTN2):c.126+157A>G rs12046163 0.38965
NM_001103.4(ACTN2):c.1407-104T>C rs10802557 0.27911
NM_001103.4(ACTN2):c.1515+268C>T rs10802558 0.17838
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16345
NM_001103.4(ACTN2):c.783+22G>A rs2288600 0.15846
NM_001103.4(ACTN2):c.1656+33A>G rs2297955 0.14350
NM_001103.4(ACTN2):c.126+331G>C rs644401 0.12208
NM_001103.4(ACTN2):c.1656+92G>T rs3818883 0.11136
NM_001103.4(ACTN2):c.698-1068T>C rs16834301 0.10210
NM_001103.4(ACTN2):c.1515+146G>T rs79149380 0.08735
NM_001103.4(ACTN2):c.1256-79G>A rs3738543 0.08634
NM_001103.4(ACTN2):c.698-1428C>T rs12569148 0.08594
NM_001103.4(ACTN2):c.2367+108C>T rs12730862 0.08412
NM_001103.4(ACTN2):c.1515+62A>G rs10925211 0.08118
NM_001103.4(ACTN2):c.378= (p.Asn126=) rs1341863 0.06968
NM_001103.4(ACTN2):c.1255+321G>A rs12737976 0.06434
NM_001103.4(ACTN2):c.241+135T>C rs10925203 0.05665
NM_001103.4(ACTN2):c.241+302G>T rs34397827 0.05381
NM_001103.4(ACTN2):c.2301+248A>G rs4659467 0.05279
NM_001103.4(ACTN2):c.449-122G>C rs12081658 0.05024
NM_001103.4(ACTN2):c.1656+258C>T rs76505998 0.04956
NM_001103.4(ACTN2):c.361+96C>T rs41269355 0.04910
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_001103.4(ACTN2):c.1515+47C>T rs79971593 0.04341
NM_001103.4(ACTN2):c.1407-128A>G rs75222641 0.04334
NM_001103.4(ACTN2):c.362-256C>T rs61643696 0.03998
NM_001103.2(ACTN2):c.-510C>T rs75163151 0.03985
NM_001103.4(ACTN2):c.615+205G>A rs12136869 0.03511
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001103.4(ACTN2):c.876+85A>T rs547374091 0.02574
NM_001103.4(ACTN2):c.536+270G>A rs74146240 0.02389
NM_001103.4(ACTN2):c.1406+68T>C rs78539646 0.02356
NM_001103.4(ACTN2):c.-22C>T rs138279482 0.02321
NM_001103.4(ACTN2):c.2301+28A>G rs114906297 0.02171
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001103.4(ACTN2):c.877-99T>C rs11807254 0.01894
NM_001103.4(ACTN2):c.2155-245T>A rs11800182 0.01740
NM_001103.4(ACTN2):c.2154+246C>A rs78966891 0.01630
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_001103.4(ACTN2):c.351= (p.Ile117=) rs1341864 0.00666
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_001103.4(ACTN2):c.876+222C>T rs150832018 0.00465
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=) rs144680712 0.00314
NM_001103.4(ACTN2):c.2368-17T>C rs78961574 0.00255
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001103.4(ACTN2):c.126+14C>T rs373269478 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001103.4(ACTN2):c.2367+8A>G rs112714025 0.00048
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.2526+8T>C rs760086675 0.00003
NM_001103.4(ACTN2):c.1108-5C>T rs369956166 0.00002
NM_001103.4(ACTN2):c.1332C>T (p.His444=) rs373709019 0.00001
NM_001103.4(ACTN2):c.1422C>T (p.His474=) rs1282303942 0.00001
NM_001103.4(ACTN2):c.-98CGCCGCC[4] rs552471202
NM_001103.4(ACTN2):c.1657-243dup rs141984611
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.1975-6C>G rs201255023
NM_001103.4(ACTN2):c.2526+260GT[10] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[14] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[15] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[16] rs3831321
NM_001103.4(ACTN2):c.2526+260GT[17] rs3831321
NM_001103.4(ACTN2):c.449-290dup rs5781923
NM_001103.4(ACTN2):c.449-292_449-290del rs5781923
NM_001103.4(ACTN2):c.537-161_537-159del rs147735389
NM_001103.4(ACTN2):c.698-248del rs143344656
NM_001103.4(ACTN2):c.784-518del rs11355106
NM_001103.4(ACTN2):c.876+84C>T rs7521191
NM_001103.4(ACTN2):c.876+85AT[11] rs67318171
NM_001103.4(ACTN2):c.877-42C>G rs7527525
NM_001103.4(ACTN2):c.877-42C>T rs7527525
NM_001103.4(ACTN2):c.877-59_877-58del rs34704730

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