ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 0.00001
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg) rs1218299104 0.00001
NM_001458.5(FLNC):c.4738-1G>A rs1808678197 0.00001
NM_001458.5(FLNC):c.5199+1G>T rs1465588989 0.00001
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NC_000007.13:g.(?_128475370)_(128478867_?)del
NC_000007.13:g.(?_128480199)_(128481774_?)del
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) rs1689596670
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_001267550.2(TTN):c.2224del (p.Ser742fs) rs2093148818
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) rs1560689563
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.48160+1G>A rs779498825
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) rs2050860445
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) rs1312613088
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter) rs2154358498
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs) rs1559187287
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001458.5(FLNC):c.1047+1G>A rs762493013
NM_001458.5(FLNC):c.1047+1G>T rs762493013
NM_001458.5(FLNC):c.1411+1G>T rs2128934545
NM_001458.5(FLNC):c.1548_1549+2del rs763330423
NM_001458.5(FLNC):c.1549+1G>A
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1676+1G>A rs111452612
NM_001458.5(FLNC):c.1814-1G>A
NM_001458.5(FLNC):c.2007+1G>A
NM_001458.5(FLNC):c.2265+1G>A rs1585157354
NM_001458.5(FLNC):c.2550+1G>C
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2811+1G>T rs2128936028
NM_001458.5(FLNC):c.2929+2_2929+7del rs2128936119
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.352+1G>T
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu) rs773481064
NM_001458.5(FLNC):c.3964+1G>A rs1808557594
NM_001458.5(FLNC):c.3964+1G>T rs1808557594
NM_001458.5(FLNC):c.4127+1G>A
NM_001458.5(FLNC):c.4128-1G>C
NM_001458.5(FLNC):c.4128-2_4128-1del rs1808585056
NM_001458.5(FLNC):c.4288+1G>A rs2128937065
NM_001458.5(FLNC):c.4288+2T>G
NM_001458.5(FLNC):c.4457-1G>A rs1404524040
NM_001458.5(FLNC):c.4580+1G>A
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp) rs1427917546
NM_001458.5(FLNC):c.46dup (p.Asp16fs)
NM_001458.5(FLNC):c.4920_4927+6del
NM_001458.5(FLNC):c.4927+2T>C
NM_001458.5(FLNC):c.4927+2T>G rs2128937680
NM_001458.5(FLNC):c.4928-1G>C
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001458.5(FLNC):c.5199+1G>C rs1465588989
NM_001458.5(FLNC):c.5398+1G>C rs1808761665
NM_001458.5(FLNC):c.5399-1G>A
NM_001458.5(FLNC):c.5399-2A>C rs2128938204
NM_001458.5(FLNC):c.5540-2A>G rs111477195
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro) rs2128938435
NM_001458.5(FLNC):c.5842+1G>A rs2128938502
NM_001458.5(FLNC):c.5842+2T>G rs2128938503
NM_001458.5(FLNC):c.5843-2A>G rs1808866340
NM_001458.5(FLNC):c.602-2A>C
NM_001458.5(FLNC):c.6202_6208+11del
NM_001458.5(FLNC):c.6209-1G>C
NM_001458.5(FLNC):c.6362-1G>T rs1808924231
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro) rs762680314
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.699+1G>A rs1562991776
NM_001458.5(FLNC):c.6997+1G>A
NM_001458.5(FLNC):c.6997+1G>T rs1585169973
NM_001458.5(FLNC):c.7384+2T>C rs112941619
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn) rs1809086992
NM_001458.5(FLNC):c.7562-1G>A rs2128940335
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
NM_001458.5(FLNC):c.7780+1G>A rs1563005607
NM_001458.5(FLNC):c.7780+1G>C rs1563005607
NM_001458.5(FLNC):c.7780+1G>T
NM_001458.5(FLNC):c.7780+2T>A
NM_001458.5(FLNC):c.7780+2T>C rs1809110247
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
NM_001458.5(FLNC):c.850+1G>A rs1808146842
NM_001458.5(FLNC):c.850+1G>T rs1808146842
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_007078.3(LDB3):c.321+1G>A
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) rs1708139265

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