ClinVar Miner

List of variants reported as likely benign for Bailey-Bloch congenital myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_145064.3(STAC3):c.883T>C (p.Phe295Leu) rs138921555 0.00110
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.870G>A (p.Gly290=) rs142117531 0.00016
NM_145064.3(STAC3):c.513C>G (p.Ala171=) rs373756417 0.00014
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.375C>T (p.Thr125=) rs571406474 0.00008
NM_145064.3(STAC3):c.997-9A>T rs746464389 0.00008
NM_145064.3(STAC3):c.807-12T>C rs752711273 0.00006
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.216G>A (p.Glu72=) rs143709026 0.00003
NM_145064.3(STAC3):c.222G>A (p.Glu74=) rs752789035 0.00003
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.1029C>T (p.Gly343=) rs774228368 0.00001
NM_145064.3(STAC3):c.129C>G (p.Pro43=) rs1398254145 0.00001
NM_145064.3(STAC3):c.334+9T>C rs750254286 0.00001
NM_145064.3(STAC3):c.402T>C (p.Tyr134=) rs745917824 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.66+19C>T rs2037850910 0.00001
NM_145064.3(STAC3):c.663C>T (p.Pro221=) rs368118525 0.00001
NM_145064.3(STAC3):c.671-20G>A rs777886823 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
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.111A>G (p.Thr37=)
NM_145064.3(STAC3):c.141G>A (p.Gln47=) rs2136836200
NM_145064.3(STAC3):c.19C>T (p.Leu7=) rs2136837471
NM_145064.3(STAC3):c.249G>A (p.Lys83=) rs1555194716
NM_145064.3(STAC3):c.264G>A (p.Lys88=)
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.300A>G (p.Pro100=)
NM_145064.3(STAC3):c.324G>A (p.Arg108=)
NM_145064.3(STAC3):c.334+14G>A rs2136835190
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.433-19C>G
NM_145064.3(STAC3):c.433-19dup
NM_145064.3(STAC3):c.433-20C>G
NM_145064.3(STAC3):c.447T>C (p.His149=)
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.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.519C>T (p.Arg173=)
NM_145064.3(STAC3):c.541C>T (p.Leu181=)
NM_145064.3(STAC3):c.603+10G>A rs988040333
NM_145064.3(STAC3):c.604-7C>T
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.670+19C>T
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.744G>A (p.Gln248=)
NM_145064.3(STAC3):c.781C>T (p.Leu261=)
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.819G>A (p.Lys273=) rs1429276510
NM_145064.3(STAC3):c.834T>C (p.Asp278=)
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.894A>G (p.Pro298=) rs1592242685
NM_145064.3(STAC3):c.954G>A (p.Val318=) rs1249446780
NM_145064.3(STAC3):c.997-5_997-3del
NM_145064.3(STAC3):c.997-6T>G rs1565779607

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