ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143 0.00018
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.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp) rs142142718 0.00011
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met) rs144025957 0.00007
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) rs146568303 0.00007
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001103.4(ACTN2):c.517A>G (p.Ile173Val) rs749860792 0.00005
NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2446G>A (p.Asp816Asn) rs1057522840 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612 0.00003
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser) rs1384783399 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 0.00003
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) rs772909106 0.00003
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg) rs397516572 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2425G>A (p.Val809Ile) rs551605384 0.00003
NM_001103.4(ACTN2):c.2507G>A (p.Arg836Gln) rs764315978 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser) rs769980647 0.00002
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=) rs189019392 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.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln) rs776947613 0.00001
NM_001103.4(ACTN2):c.1337C>T (p.Ala446Val) rs767041933 0.00001
NM_001103.4(ACTN2):c.1418A>G (p.Tyr473Cys) rs957128342 0.00001
NM_001103.4(ACTN2):c.1789A>C (p.Asn597His) rs1262131275 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1852G>A (p.Val618Met) rs1178612038 0.00001
NM_001103.4(ACTN2):c.193G>A (p.Asp65Asn) rs781118555 0.00001
NM_001103.4(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710 0.00001
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg) rs1173244523 0.00001
NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229 0.00001
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser) rs1057523721 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053 0.00001
NM_001103.4(ACTN2):c.2210A>C (p.Glu737Ala) rs982200490 0.00001
NM_001103.4(ACTN2):c.2252C>T (p.Thr751Ile) rs140836849 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.244G>A (p.Glu82Lys) rs139424431 0.00001
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) rs372348405 0.00001
NM_001103.4(ACTN2):c.2594G>C (p.Arg865Thr) rs752937110 0.00001
NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) rs370341149 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 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.970C>T (p.Arg324Trp) rs747674727 0.00001
NM_001103.4(ACTN2):c.*3C>T rs1131691800
NM_001103.4(ACTN2):c.1009G>A (p.Glu337Lys) rs760884869
NM_001103.4(ACTN2):c.1108-10A>G rs397516564
NM_001103.4(ACTN2):c.1237C>G (p.His413Asp)
NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter) rs764881077
NM_001103.4(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.143G>C (p.Cys48Ser) rs794728959
NM_001103.4(ACTN2):c.1442A>G (p.Asp481Gly) rs1057518451
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1470G>C (p.Trp490Cys)
NM_001103.4(ACTN2):c.1492C>T (p.Gln498Ter) rs1553303445
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1522G>A (p.Glu508Lys)
NM_001103.4(ACTN2):c.1579C>T (p.Pro527Ser) rs745651013
NM_001103.4(ACTN2):c.1657-6G>A rs1328857189
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu) rs756815410
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.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.200G>A (p.Arg67Lys) rs1658270003
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2056A>C (p.Ile686Leu) rs534607483
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2168G>A (p.Gly723Glu)
NM_001103.4(ACTN2):c.2224A>T (p.Ile742Phe)
NM_001103.4(ACTN2):c.2289C>G (p.Asn763Lys) rs745579917
NM_001103.4(ACTN2):c.2309A>G (p.Asn770Ser)
NM_001103.4(ACTN2):c.2395A>G (p.Thr799Ala)
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2437T>A (p.Ser813Thr) rs1553305106
NM_001103.4(ACTN2):c.2480C>G (p.Thr827Ser) rs1057524767
NM_001103.4(ACTN2):c.2520del (p.Asp841fs) rs794728969
NM_001103.4(ACTN2):c.2539G>A (p.Ala847Thr) rs1064796605
NM_001103.4(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs) rs1553305275
NM_001103.4(ACTN2):c.2630dup (p.Ala878fs) rs1553305291
NM_001103.4(ACTN2):c.346_347delinsAT (p.Ser116Ile) rs2102894956
NM_001103.4(ACTN2):c.353G>A (p.Gly118Asp) rs794728960
NM_001103.4(ACTN2):c.394_395delinsCT (p.Gly132Leu) rs2102896537
NM_001103.4(ACTN2):c.418C>T (p.Arg140Cys) rs1131691439
NM_001103.4(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) rs794728961
NM_001103.4(ACTN2):c.509A>G (p.Asn170Ser) rs1057523249
NM_001103.4(ACTN2):c.579C>G (p.His193Gln)
NM_001103.4(ACTN2):c.620A>G (p.Asp207Gly) rs794728962
NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu) rs1057518609
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) rs904672923
NM_001103.4(ACTN2):c.700A>C (p.Ile234Leu) rs794728963
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.770C>T (p.Ala257Val) rs759652494
NM_001103.4(ACTN2):c.784-2A>G rs794728964
NM_001103.4(ACTN2):c.784-478G>T
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.82C>A (p.Arg28Ser) rs730880040
NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)
NM_001103.4(ACTN2):c.905C>T (p.Pro302Leu)
NM_001103.4(ACTN2):c.934A>T (p.Thr312Ser) rs2102922477
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)

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