ClinVar Miner

List of variants studied for Bailey-Bloch congenital myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_145064.3(STAC3):c.1086G>A (p.Glu362=) rs61739642 0.01278
NM_145064.3(STAC3):c.996+17A>T rs150268069 0.00819
NM_145064.3(STAC3):c.570G>A (p.Lys190=) rs76667525 0.00762
NM_145064.3(STAC3):c.604-8C>T rs76823783 0.00762
NM_145064.3(STAC3):c.1023G>C (p.Ala341=) rs61747067 0.00529
NM_145064.3(STAC3):c.355C>T (p.Arg119Cys) rs146313451 0.00131
NM_145064.3(STAC3):c.883T>C (p.Phe295Leu) rs138921555 0.00110
NM_145064.3(STAC3):c.157G>A (p.Val53Met) rs141938531 0.00054
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_145064.3(STAC3):c.433-15C>T rs189284325 0.00030
NM_145064.3(STAC3):c.465A>G (p.Pro155=) rs112950677 0.00026
NM_145064.3(STAC3):c.221A>G (p.Glu74Gly) rs199716296 0.00024
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347 0.00022
NM_145064.3(STAC3):c.870G>A (p.Gly290=) rs142117531 0.00016
NM_145064.3(STAC3):c.513C>G (p.Ala171=) rs373756417 0.00014
NM_145064.3(STAC3):c.323G>A (p.Arg108Gln) rs186941885 0.00013
NM_145064.3(STAC3):c.962G>A (p.Arg321His) rs370840978 0.00012
NM_145064.3(STAC3):c.258C>T (p.Asn86=) rs148939626 0.00010
NM_145064.3(STAC3):c.518G>A (p.Arg173His) rs187407788 0.00010
NM_145064.3(STAC3):c.941C>T (p.Thr314Met) rs146430404 0.00010
NM_145064.3(STAC3):c.806C>T (p.Pro269Leu) rs367590066 0.00009
NM_145064.3(STAC3):c.375C>T (p.Thr125=) rs571406474 0.00008
NM_145064.3(STAC3):c.997-9A>T rs746464389 0.00008
NM_145064.3(STAC3):c.636G>C (p.Glu212Asp) rs201567526 0.00006
NM_145064.3(STAC3):c.807-12T>C rs752711273 0.00006
NM_145064.3(STAC3):c.545G>A (p.Arg182His) rs200605475 0.00005
NM_145064.3(STAC3):c.1022C>T (p.Ala341Val) rs753014378 0.00004
NM_145064.3(STAC3):c.486C>T (p.Tyr162=) rs142290435 0.00004
NM_145064.3(STAC3):c.666G>A (p.Gln222=) rs759344334 0.00004
NM_145064.3(STAC3):c.73C>T (p.Arg25Trp) rs747642245 0.00004
NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu) rs762866281 0.00003
NM_145064.3(STAC3):c.216G>A (p.Glu72=) rs143709026 0.00003
NM_145064.3(STAC3):c.222G>A (p.Glu74=) rs752789035 0.00003
NM_145064.3(STAC3):c.895A>G (p.Asn299Asp) rs754269738 0.00003
NM_145064.3(STAC3):c.166G>C (p.Gly56Arg) rs762781734 0.00002
NM_145064.3(STAC3):c.217G>C (p.Glu73Gln) rs777991873 0.00002
NM_145064.3(STAC3):c.232C>G (p.Pro78Ala) rs751491183 0.00002
NM_145064.3(STAC3):c.251T>G (p.Leu84Arg) rs201754072 0.00002
NM_145064.3(STAC3):c.335-10C>T rs181578623 0.00002
NM_145064.3(STAC3):c.335-9T>C rs757163562 0.00002
NM_145064.3(STAC3):c.720+6A>G rs375395653 0.00002
NM_145064.3(STAC3):c.1029C>T (p.Gly343=) rs774228368 0.00001
NM_145064.3(STAC3):c.129C>G (p.Pro43=) rs1398254145 0.00001
NM_145064.3(STAC3):c.170G>T (p.Gly57Val) rs1027548586 0.00001
NM_145064.3(STAC3):c.187A>G (p.Ile63Val) rs772643404 0.00001
NM_145064.3(STAC3):c.259G>A (p.Asp87Asn) rs776406787 0.00001
NM_145064.3(STAC3):c.280G>A (p.Asp94Asn) rs368386121 0.00001
NM_145064.3(STAC3):c.334+9T>C rs750254286 0.00001
NM_145064.3(STAC3):c.339C>A (p.Asn113Lys) rs763684159 0.00001
NM_145064.3(STAC3):c.393_395dup (p.Cys131_Gln132insHis) rs765764018 0.00001
NM_145064.3(STAC3):c.402T>C (p.Tyr134=) rs745917824 0.00001
NM_145064.3(STAC3):c.436C>G (p.Pro146Ala) rs754562509 0.00001
NM_145064.3(STAC3):c.441T>C (p.Gly147=) rs757838723 0.00001
NM_145064.3(STAC3):c.505+14A>G rs1414034335 0.00001
NM_145064.3(STAC3):c.505+7G>A rs776356329 0.00001
NM_145064.3(STAC3):c.505+9C>T rs1565782506 0.00001
NM_145064.3(STAC3):c.506-15C>T rs2037754910 0.00001
NM_145064.3(STAC3):c.517C>T (p.Arg173Cys) rs1404488985 0.00001
NM_145064.3(STAC3):c.521A>G (p.Asn174Ser) rs1038718298 0.00001
NM_145064.3(STAC3):c.574C>T (p.Arg192Trp) rs1202021365 0.00001
NM_145064.3(STAC3):c.630G>T (p.Glu210Asp) rs758788446 0.00001
NM_145064.3(STAC3):c.66+19C>T rs2037850910 0.00001
NM_145064.3(STAC3):c.663C>T (p.Pro221=) rs368118525 0.00001
NM_145064.3(STAC3):c.670+3del rs1236144994 0.00001
NM_145064.3(STAC3):c.671-20G>A rs777886823 0.00001
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter) rs1202215410 0.00001
NM_145064.3(STAC3):c.774C>G (p.Phe258Leu) rs922499167 0.00001
NM_145064.3(STAC3):c.859-18C>G rs936965730 0.00001
NM_145064.3(STAC3):c.879C>A (p.Val293=) rs367701062 0.00001
NM_145064.3(STAC3):c.963C>T (p.Arg321=) rs988981364 0.00001
NC_000012.11:g.(?_57640567)_(57642001_?)del
NC_000012.12:g.(?_57243443)_(57249646_?)dup
NM_145064.3(STAC3):c.1008G>C (p.Gln336His) rs2136821205
NM_145064.3(STAC3):c.1014A>G (p.Gly338=) rs376366403
NM_145064.3(STAC3):c.1023G>A (p.Ala341=) rs61747067
NM_145064.3(STAC3):c.1068T>C (p.Phe356=)
NM_145064.3(STAC3):c.1073C>T (p.Thr358Ile) rs2136820993
NM_145064.3(STAC3):c.1090A>T (p.Ile364Phe)
NM_145064.3(STAC3):c.111A>G (p.Thr37=)
NM_145064.3(STAC3):c.113A>G (p.Lys38Arg)
NM_145064.3(STAC3):c.125T>C (p.Leu42Pro)
NM_145064.3(STAC3):c.141G>A (p.Gln47=) rs2136836200
NM_145064.3(STAC3):c.145A>G (p.Asn49Asp) rs2037840980
NM_145064.3(STAC3):c.151G>C (p.Glu51Gln) rs2136836172
NM_145064.3(STAC3):c.170G>A (p.Gly57Asp)
NM_145064.3(STAC3):c.170G>C (p.Gly57Ala) rs1027548586
NM_145064.3(STAC3):c.181TAC[1] (p.Tyr62del) rs2037839479
NM_145064.3(STAC3):c.195GGAAGA[2] (p.Glu75_Glu76del) rs747619441
NM_145064.3(STAC3):c.195GGAAGA[4] (p.Glu75_Glu76dup) rs747619441
NM_145064.3(STAC3):c.19C>T (p.Leu7=) rs2136837471
NM_145064.3(STAC3):c.214GAG[4] (p.Glu76del) rs781007752
NM_145064.3(STAC3):c.214GAG[6] (p.Glu76dup) rs781007752
NM_145064.3(STAC3):c.249G>A (p.Lys83=) rs1555194716
NM_145064.3(STAC3):c.24G>C (p.Glu8Asp) rs2136837458
NM_145064.3(STAC3):c.264G>A (p.Lys88=)
NM_145064.3(STAC3):c.264G>T (p.Lys88Asn) rs200362421
NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr) rs775388111
NM_145064.3(STAC3):c.270C>T (p.His90=)
NM_145064.3(STAC3):c.273A>G (p.Lys91=) rs2136835566
NM_145064.3(STAC3):c.276C>T (p.Phe92=)
NM_145064.3(STAC3):c.293A>G (p.Lys98Arg)
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)
NM_145064.3(STAC3):c.299C>T (p.Pro100Leu) rs1176692820
NM_145064.3(STAC3):c.300A>G (p.Pro100=)
NM_145064.3(STAC3):c.324G>A (p.Arg108=)
NM_145064.3(STAC3):c.329T>C (p.Ile110Thr)
NM_145064.3(STAC3):c.334+14G>A rs2136835190
NM_145064.3(STAC3):c.334+3G>T rs2136835225
NM_145064.3(STAC3):c.334C>T (p.Leu112Phe)
NM_145064.3(STAC3):c.336CAA[2] (p.Asn114del) rs1260528039
NM_145064.3(STAC3):c.347T>A (p.Phe116Tyr)
NM_145064.3(STAC3):c.347T>G (p.Phe116Cys) rs1565783065
NM_145064.3(STAC3):c.34C>G (p.Pro12Ala) rs1382772416
NM_145064.3(STAC3):c.379A>G (p.Ile127Val)
NM_145064.3(STAC3):c.383_399del (p.His128fs) rs1555194630
NM_145064.3(STAC3):c.392G>C (p.Cys131Ser)
NM_145064.3(STAC3):c.395A>G (p.Gln132Arg)
NM_145064.3(STAC3):c.404T>C (p.Val135Ala) rs2037825175
NM_145064.3(STAC3):c.416G>C (p.Arg139Thr)
NM_145064.3(STAC3):c.417A>G (p.Arg139=)
NM_145064.3(STAC3):c.419G>C (p.Cys140Ser) rs779015879
NM_145064.3(STAC3):c.424G>A (p.Gly142Ser) rs777565251
NM_145064.3(STAC3):c.424G>C (p.Gly142Arg) rs777565251
NM_145064.3(STAC3):c.432+11T>C rs2037823824
NM_145064.3(STAC3):c.432+17G>A
NM_145064.3(STAC3):c.432+20C>G
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145064.3(STAC3):c.433-19C>G
NM_145064.3(STAC3):c.433-19dup
NM_145064.3(STAC3):c.433-20C>G
NM_145064.3(STAC3):c.440G>A (p.Gly147Asp) rs1280812031
NM_145064.3(STAC3):c.445C>T (p.His149Tyr)
NM_145064.3(STAC3):c.447T>C (p.His149=)
NM_145064.3(STAC3):c.449G>A (p.Arg150Gln)
NM_145064.3(STAC3):c.458G>A (p.Ser153Asn) rs2037800739
NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)
NM_145064.3(STAC3):c.473G>A (p.Ser158Asn) rs1592247209
NM_145064.3(STAC3):c.487G>A (p.Ala163Thr) rs1555194487
NM_145064.3(STAC3):c.491G>C (p.Cys164Ser) rs2037798842
NM_145064.3(STAC3):c.495C>T (p.Val165=)
NM_145064.3(STAC3):c.505+13T>C
NM_145064.3(STAC3):c.505+15T>C
NM_145064.3(STAC3):c.505+20C>T
NM_145064.3(STAC3):c.505+6T>G rs2136832342
NM_145064.3(STAC3):c.506-19T>C
NM_145064.3(STAC3):c.506-22_506-20del
NM_145064.3(STAC3):c.506-6G>T rs755388478
NM_145064.3(STAC3):c.506-7C>T
NM_145064.3(STAC3):c.518G>T (p.Arg173Leu) rs187407788
NM_145064.3(STAC3):c.519C>T (p.Arg173=)
NM_145064.3(STAC3):c.530T>C (p.Val177Ala)
NM_145064.3(STAC3):c.541C>T (p.Leu181=)
NM_145064.3(STAC3):c.544C>A (p.Arg182Ser) rs768476164
NM_145064.3(STAC3):c.554T>C (p.Val185Ala) rs2037753047
NM_145064.3(STAC3):c.56G>T (p.Arg19Leu)
NM_145064.3(STAC3):c.583G>A (p.Gly195Arg) rs1382250150
NM_145064.3(STAC3):c.603+10G>A rs988040333
NM_145064.3(STAC3):c.604-7C>T
NM_145064.3(STAC3):c.622G>C (p.Glu208Gln) rs2037706930
NM_145064.3(STAC3):c.652G>A (p.Glu218Lys) rs753872266
NM_145064.3(STAC3):c.66+10G>A
NM_145064.3(STAC3):c.66+11G>A
NM_145064.3(STAC3):c.66+8T>C
NM_145064.3(STAC3):c.662C>A (p.Pro221His) rs760547303
NM_145064.3(STAC3):c.670+19C>T
NM_145064.3(STAC3):c.670+2T>A
NM_145064.3(STAC3):c.670G>A (p.Gly224Arg)
NM_145064.3(STAC3):c.671-10C>G rs983045607
NM_145064.3(STAC3):c.694del (p.Ala232fs) rs774555559
NM_145064.3(STAC3):c.720+18del
NM_145064.3(STAC3):c.720+19_720+20insAAGAATCCTTCCTCCCTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAATAGAGTGACCCAACATCGCGAACAACAACCCCGTCCCGGAGAGAGATCGGTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_145064.3(STAC3):c.720+9C>A
NM_145064.3(STAC3):c.721-15C>T
NM_145064.3(STAC3):c.721-3del
NM_145064.3(STAC3):c.744G>A (p.Gln248=)
NM_145064.3(STAC3):c.746C>T (p.Ser249Phe) rs760144996
NM_145064.3(STAC3):c.763_766del (p.Leu255fs) rs773050511
NM_145064.3(STAC3):c.770G>T (p.Arg257Leu) rs2037686346
NM_145064.3(STAC3):c.781C>T (p.Leu261=)
NM_145064.3(STAC3):c.799G>C (p.Asp267His) rs2136822846
NM_145064.3(STAC3):c.805C>T (p.Pro269Ser)
NM_145064.3(STAC3):c.806+8G>T
NM_145064.3(STAC3):c.807-13C>T
NM_145064.3(STAC3):c.807-16T>C rs2136822470
NM_145064.3(STAC3):c.807-5C>A rs762164153
NM_145064.3(STAC3):c.816_817del (p.Lys273fs)
NM_145064.3(STAC3):c.819G>A (p.Lys273=) rs1429276510
NM_145064.3(STAC3):c.834T>C (p.Asp278=)
NM_145064.3(STAC3):c.842A>G (p.Asn281Ser) rs115276341
NM_145064.3(STAC3):c.843T>C (p.Asn281=) rs2136822332
NM_145064.3(STAC3):c.858+14C>A
NM_145064.3(STAC3):c.859-11_859-8dup rs754530968
NM_145064.3(STAC3):c.859-20C>T
NM_145064.3(STAC3):c.859-4C>A rs776936909
NM_145064.3(STAC3):c.893C>G (p.Pro298Arg) rs2136821900
NM_145064.3(STAC3):c.894A>G (p.Pro298=) rs1592242685
NM_145064.3(STAC3):c.904A>T (p.Ile302Phe) rs2136821866
NM_145064.3(STAC3):c.932A>G (p.His311Arg) rs1555193817
NM_145064.3(STAC3):c.935G>A (p.Arg312His) rs2037674310
NM_145064.3(STAC3):c.954G>A (p.Val318=) rs1249446780
NM_145064.3(STAC3):c.964G>T (p.Glu322Ter) rs2136821674
NM_145064.3(STAC3):c.969dup (p.Gly324fs)
NM_145064.3(STAC3):c.978C>G (p.Ile326Met) rs754455763
NM_145064.3(STAC3):c.987G>T (p.Lys329Asn) rs1445308443
NM_145064.3(STAC3):c.996+1G>A rs112907880
NM_145064.3(STAC3):c.996+3A>G rs2136821619
NM_145064.3(STAC3):c.996+4G>A rs2037672628
NM_145064.3(STAC3):c.997-1G>C rs779483367
NM_145064.3(STAC3):c.997-5_997-3del
NM_145064.3(STAC3):c.997-6T>G rs1565779607
NM_145064.3(STAC3):c.999C>G (p.Ile333Met) rs754352201

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