ClinVar Miner

List of variants studied for centronuclear myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_139343.2(BIN1):c.-389T>A rs56827597 0.08511
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_001005361.3(DNM2):c.*385C>T rs78160240 0.03446
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_001005361.3(DNM2):c.*671T>C rs190696940 0.00325
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001005361.3(DNM2):c.*607G>A rs117954916 0.00085
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00029
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001005361.3(DNM2):c.*321A>G rs149937994 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00018
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_001005361.3(DNM2):c.*453C>T rs200104482 0.00016
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001005361.3(DNM2):c.*14C>T rs369529119 0.00010
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_001005361.3(DNM2):c.*601C>T rs185820576 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*22C>T rs531170486
NM_001005361.3(DNM2):c.*35C>G rs199700849
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*386G>C rs74952080
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224

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