List of variants in gene STAC3 reported as uncertain significance for congenital myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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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	0.00010
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.560T>A (p.Met187Lys)	rs1461373398
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.772T>C (p.Phe258Leu)
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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