ClinVar Miner

List of variants reported as uncertain significance for Bailey-Bloch congenital myopathy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_145064.3(STAC3):c.157G>A (p.Val53Met) rs141938531 0.00054
NM_145064.3(STAC3):c.221A>G (p.Glu74Gly) rs199716296 0.00024
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.941C>T (p.Thr314Met) rs146430404 0.00011
NM_145064.3(STAC3):c.806C>T (p.Pro269Leu) rs367590066 0.00009
NM_145064.3(STAC3):c.636G>C (p.Glu212Asp) rs201567526 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.73C>T (p.Arg25Trp) rs747642245 0.00004
NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu) rs762866281 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.720+6A>G rs375395653 0.00002
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.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.436C>G (p.Pro146Ala) rs754562509 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.670+3del rs1236144994 0.00001
NM_145064.3(STAC3):c.774C>G (p.Phe258Leu) rs922499167 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.1073C>T (p.Thr358Ile) rs2136820993
NM_145064.3(STAC3):c.1090A>T (p.Ile364Phe)
NM_145064.3(STAC3):c.113A>G (p.Lys38Arg)
NM_145064.3(STAC3):c.125T>C (p.Leu42Pro)
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.214GAG[4] (p.Glu76del) rs781007752
NM_145064.3(STAC3):c.214GAG[6] (p.Glu76dup) rs781007752
NM_145064.3(STAC3):c.24G>C (p.Glu8Asp) rs2136837458
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.293A>G (p.Lys98Arg)
NM_145064.3(STAC3):c.299C>T (p.Pro100Leu) rs1176692820
NM_145064.3(STAC3):c.329T>C (p.Ile110Thr)
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.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+4A>T rs751033943
NM_145064.3(STAC3):c.440G>A (p.Gly147Asp) rs1280812031
NM_145064.3(STAC3):c.445C>T (p.His149Tyr)
NM_145064.3(STAC3):c.449G>A (p.Arg150Gln)
NM_145064.3(STAC3):c.458G>A (p.Ser153Asn) rs2037800739
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.505+6T>G rs2136832342
NM_145064.3(STAC3):c.518G>T (p.Arg173Leu) rs187407788
NM_145064.3(STAC3):c.530T>C (p.Val177Ala)
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.622G>C (p.Glu208Gln) rs2037706930
NM_145064.3(STAC3):c.652G>A (p.Glu218Lys) rs753872266
NM_145064.3(STAC3):c.662C>A (p.Pro221His) rs760547303
NM_145064.3(STAC3):c.670G>A (p.Gly224Arg)
NM_145064.3(STAC3):c.671-10C>G rs983045607
NM_145064.3(STAC3):c.746C>T (p.Ser249Phe) rs760144996
NM_145064.3(STAC3):c.770G>T (p.Arg257Leu) rs2037686346
NM_145064.3(STAC3):c.799G>C (p.Asp267His) rs2136822846
NM_145064.3(STAC3):c.805C>T (p.Pro269Ser)
NM_145064.3(STAC3):c.893C>G (p.Pro298Arg) rs2136821900
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.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.999C>G (p.Ile333Met) rs754352201

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