ClinVar Miner

List of variants in gene ACTN2 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.242-84G>A rs1341865 0.99335
NM_001103.4(ACTN2):c.351T>C (p.Ile117=) rs1341864 0.99334
NM_001103.4(ACTN2):c.448+73G>A rs1341862 0.93228
NM_001103.4(ACTN2):c.378C>T (p.Asn126=) rs1341863 0.93032
NM_001103.4(ACTN2):c.2526+33A>G rs2282366 0.85706
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77958
NM_001103.4(ACTN2):c.1107+33A>C rs2288602 0.50667
NM_001103.4(ACTN2):c.241+131C>T rs2275399 0.45532
NM_001103.4(ACTN2):c.697+33G>A rs819640 0.39452
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001103.4(ACTN2):c.*1969C>T rs753897286 0.00120
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001103.4(ACTN2):c.*551G>A rs566548706 0.00047
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001103.4(ACTN2):c.*128G>A rs142016713 0.00013
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.*1001T>A rs902731297 0.00007
NM_001103.4(ACTN2):c.*1645C>G rs577833572 0.00007
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.537-14C>T rs577211083 0.00005
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser) rs1384783399 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser) rs769980647 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser) rs1311487466 0.00001
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln) rs141434302 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=) rs1659474774 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001103.4(ACTN2):c.2573A>C (p.Gln858Pro) rs769940120 0.00001
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu) rs1395445136 0.00001
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys) rs754834889 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val) rs769564893 0.00001
NM_001103.4(ACTN2):c.698-1179G>A rs1317190224 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001103.4(ACTN2):c.*286T>C rs190536248
NM_001103.4(ACTN2):c.*979C>A rs181615071
NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly) rs1234368540
NM_001103.4(ACTN2):c.1053G>C (p.Lys351Asn)
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro) rs1572137003
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln) rs764031568
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu) rs773915011
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys) rs1398504608
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001103.4(ACTN2):c.21C>T (p.Gly7=) rs1387972965
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys) rs770335717
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro) rs863224691
NM_001103.4(ACTN2):c.307G>A (p.Ala103Thr)
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.4(ACTN2):c.877-42C>T rs7527525
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys) rs1572132678
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.