ClinVar Miner

List of variants reported as likely benign for autosomal dominant distal myopathy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 257
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HGVS dbSNP
NM_001267550.2(TTN):c.*25C>T rs370597649
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) rs775644738
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln) rs368151146
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492
NM_001267550.2(TTN):c.106293T>C (p.Val35431=) rs749108651
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=) rs761965591
NM_001267550.2(TTN):c.107377+14C>T rs367908657
NM_001267550.2(TTN):c.11312-4478C>T rs151253841
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) rs761666344
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) rs761269554
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) rs377023302
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val)
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691
NM_001267550.2(TTN):c.19994-13C>T
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu) rs201586695
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) rs759713604
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr) rs138076523
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800
NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser) rs374167223
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) rs200572298
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg)
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524
NM_001267550.2(TTN):c.28175-10C>T rs748478445
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys)
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) rs200489972
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30682+7T>C rs752353097
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) rs72650020
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694
NM_001267550.2(TTN):c.31548G>A (p.Glu10516=) rs777887659
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=)
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val) rs528216574
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn)
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035
NM_001267550.2(TTN):c.33126C>T (p.Val11042=) rs72650036
NM_001267550.2(TTN):c.33173-4G>A rs727504440
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=) rs141768043
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg) rs181375012
NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg)
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser)
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg)
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526
NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile) rs148808516
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=)
NM_001267550.2(TTN):c.48461-11A>G
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859
NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp) rs767768313
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557
NM_001267550.2(TTN):c.49648+13T>A rs368996176
NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr) rs774556838
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met) rs554368924
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys)
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=) rs747908048
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)
NM_001267550.2(TTN):c.54381+6C>G rs368265962
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys)
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala)
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) rs727505316
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe)
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=) rs749180542
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys)
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) rs749018114
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) rs368450785
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val) rs781121273
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) rs371324060
NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser) rs781220405
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812
NM_001267550.2(TTN):c.68528-8T>C
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=) rs780920316
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) rs748412838
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) rs747430905
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) rs377668457
NM_001267550.2(TTN):c.78756T>C (p.Ile26252=) rs372319281
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906
NM_001267550.2(TTN):c.79155G>A (p.Val26385=) rs377618488
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) rs749194310
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) rs749305586
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=) rs766611189
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly) rs751860205
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys)
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192
NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val) rs117097948
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=) rs764189986
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) rs752309744
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385
NM_001267550.2(TTN):c.97192+6G>A rs367760700
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) rs569593251
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940
NM_001267550.2(TTN):c.98989+12A>C rs72648275
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001927.4(DES):c.*662G>A rs116635264
NM_001927.4(DES):c.-44G>A rs184826121
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_006790.2(MYOT):c.*463C>T rs149535236
NM_006790.2(MYOT):c.-233C>A rs186433387
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu) rs78633961
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.981T>C (p.Asn327=) rs148479015
NM_006790.3(MYOT):c.*404G>A
NM_007078.3(LDB3):c.-24+8T>C rs2803558
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_007078.3(LDB3):c.690-4668T>C rs76615432
NM_007078.3(LDB3):c.690-4842G>A rs113445294
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007078.3(LDB3):c.896+6959C>T rs139415121
NM_018834.6(MATR3):c.-56G>A rs59033177
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940
NM_133378.4(TTN):c.45878-4A>G rs772324772

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