ClinVar Miner

List of variants reported as likely pathogenic for congenital myopathy by Counsyl

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.11076+1G>A rs1460365350 0.00001
NM_001164508.2(NEB):c.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter) rs756726488 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA rs1357452519 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001164508.2(NEB):c.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.11181+2T>C rs1553904694
NM_001164508.2(NEB):c.11289+1G>C rs1553901249
NM_001164508.2(NEB):c.11602-2A>C rs1553891733
NM_001164508.2(NEB):c.11909_11910+4del rs1553886582
NM_001164508.2(NEB):c.1366-2A>G rs1553607505
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1570-2_1574del rs1553603933
NM_001164508.2(NEB):c.1672_1674+2del rs1057516739
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001164508.2(NEB):c.18471+1G>C rs1553769576
NM_001164508.2(NEB):c.18694-2del rs1553763404
NM_001164508.2(NEB):c.1897-1G>A rs1553593177
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001164508.2(NEB):c.19207-1G>A rs1553755829
NM_001164508.2(NEB):c.19836+1G>T rs1446930968
NM_001164508.2(NEB):c.20157+2T>C rs1553717306
NM_001164508.2(NEB):c.20158-1G>C rs1553715579
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001164508.2(NEB):c.20467-1G>T rs760082702
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001164508.2(NEB):c.20788-1G>A rs1553695557
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001164508.2(NEB):c.21312+1G>A rs1553682994
NM_001164508.2(NEB):c.21630+1G>A rs1446706909
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter) rs1553646540
NM_001164508.2(NEB):c.2211+1G>A rs1553586486
NM_001164508.2(NEB):c.2212-2A>G rs1553580540
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22162-5_22162-2del rs1553644243
NM_001164508.2(NEB):c.22273-1G>A rs1553642332
NM_001164508.2(NEB):c.22479+1del rs1488066635
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.2310+2T>A rs1553579092
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs) rs1553603438
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter) rs755970391
NM_001164508.2(NEB):c.23835+1G>A rs781120931
NM_001164508.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs) rs1057516938
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del rs1423137705
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs) rs1553561665
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24039del (p.Asn8013fs) rs1553561525
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs) rs1553556275
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24207+2T>C rs1553555768
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs) rs1553551650
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs) rs1553548771
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter) rs1553548752
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter) rs1332061304
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs) rs1553548018
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24580-2A>G rs113290650
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter) rs1553536267
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24673-2A>C rs112687345
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24766-9_24767del rs1553530144
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter) rs1553526619
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25057+1G>C rs1191429915
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.25151-1G>T rs1553520609
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25297+2del rs1553519860
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter) rs1553519124
NM_001164508.2(NEB):c.25404+2T>A rs1553518813
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001164508.2(NEB):c.2944-1G>A rs1553542669
NM_001164508.2(NEB):c.295-1G>T rs111300270
NM_001164508.2(NEB):c.3147+1del rs1553539777
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1del rs1553538835
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.37-1G>C rs1428597732
NM_001164508.2(NEB):c.3774+2T>C rs1553531049
NM_001164508.2(NEB):c.3880-1G>T rs1057516381
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3988-1G>A rs1553517128
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4300-2A>C rs1553512813
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4719+2T>C rs1553501889
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.507+1G>A rs1553689057
NM_001164508.2(NEB):c.5344-1G>A rs1197561990
NM_001164508.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001164508.2(NEB):c.5452-2A>G rs1057517317
NM_001164508.2(NEB):c.6075+1G>A rs1553472127
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.613-2A>G rs752893483
NM_001164508.2(NEB):c.6183+1G>A rs557870969
NM_001164508.2(NEB):c.6183+1del rs1553468960
NM_001164508.2(NEB):c.6183+2T>A rs1553468939
NM_001164508.2(NEB):c.6808-2A>T rs1553457607
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.7227+2T>C rs1553448527
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001164508.2(NEB):c.7432-2A>G rs1553990438
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.823-2A>G rs1553642811
NM_001164508.2(NEB):c.8374-1G>A rs1180407562
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8994+2T>C rs1553962493
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001164508.2(NEB):c.927+1G>A rs374562457
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001164508.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9724-2A>G rs1553934597
NM_001164508.2(NEB):c.9831+1G>A rs1553933986
NM_001164508.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) rs1471478620

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