ClinVar Miner

List of variants studied for Myofibrillar Myopathy, Dominant by Illumina Laboratory Services, Illumina

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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_058246.4(DNAJB6):c.*699T>C rs4716719 0.98753
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_001927.3(DES):c.*762T>C rs11685408 0.49560
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_058246.4(DNAJB6):c.*759C>T rs1059752 0.34812
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_058246.4(DNAJB6):c.*726A>G rs7787595 0.09177
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.*468G>T rs73085265 0.02797
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_058246.4(DNAJB6):c.*639A>G rs76450641 0.00706
NM_058246.4(DNAJB6):c.*776C>T rs115297289 0.00683
NM_058246.4(DNAJB6):c.-86G>A rs562984002 0.00659
NM_058246.4(DNAJB6):c.*72C>T rs116630040 0.00519
NM_058246.4(DNAJB6):c.-85G>T rs533497802 0.00486
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_058246.4(DNAJB6):c.*88G>A rs139193261 0.00398
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_058246.4(DNAJB6):c.*489T>C rs187704048 0.00309
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468 0.00068
NM_058246.4(DNAJB6):c.*934C>T rs886062136 0.00063
NM_058246.4(DNAJB6):c.-43G>T rs566594165 0.00060
NM_058246.4(DNAJB6):c.*902C>T rs547235102 0.00056
NM_001927.4(DES):c.-44G>A rs184826121 0.00055
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_006790.3(MYOT):c.*463C>T rs149535236 0.00051
NM_058246.4(DNAJB6):c.*306C>T rs576133569 0.00038
NM_058246.4(DNAJB6):c.692-13G>T rs192981897 0.00038
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_001289808.2(CRYAB):c.-21C>T rs376222434 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00016
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
NM_058246.4(DNAJB6):c.476C>T (p.Thr159Ile) rs199651553 0.00010
NM_001927.4(DES):c.*489G>A rs886055655 0.00006
NM_006790.3(MYOT):c.-165C>T rs866748883 0.00006
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00006
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_006790.3(MYOT):c.*418T>C rs778508971 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_001927.4(DES):c.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_007078.3(LDB3):c.897-6909G>A rs532856980 0.00003
NM_058246.4(DNAJB6):c.*289C>T rs886062131 0.00003
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) rs752723849 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001927.4(DES):c.*428G>C rs886055654 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004281.4(BAG3):c.564G>T (p.Leu188=) rs886046754 0.00001
NM_006790.3(MYOT):c.*167A>G rs886059969 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_058246.4(DNAJB6):c.562T>C (p.Phe188Leu) rs886062128 0.00001
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=) rs886062129 0.00001
NM_001289808.2(CRYAB):c.*107A>G rs886047686
NM_001289808.2(CRYAB):c.*39T>C rs782808506
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001927.4(DES):c.-74C>T rs886055653
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_004281.4(BAG3):c.*240GTT[1] rs3981124
NM_004281.4(BAG3):c.*306_*307del rs796515184
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg) rs886046755
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_006790.3(MYOT):c.-89del rs886059966
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.896+6957G>A rs886047354
NM_007078.3(LDB3):c.897-6525T>C rs886047356
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_058246.4(DNAJB6):c.*64C>A rs562936080
NM_058246.4(DNAJB6):c.*781C>A rs886062135
NM_058246.4(DNAJB6):c.-108C>A rs886062125
NM_058246.4(DNAJB6):c.188A>G (p.Asp63Gly) rs886062127

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