ClinVar Miner

List of variants in gene COL6A2 reported as pathogenic for Bethlem myopathy 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NC_000021.9:g.(?_46111477)_(46121123_?)del
NM_001849.3(COL6A2):c.1000-2A>G
NM_001849.3(COL6A2):c.1053+1G>C rs886043187
NM_001849.3(COL6A2):c.1053+2delT rs886044140
NM_001849.3(COL6A2):c.1059delC (p.Asp354Thrfs) rs1555873508
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.1294A>T (p.Lys432Ter)
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter)
NM_001849.3(COL6A2):c.1458+1G>A rs886044526
NM_001849.3(COL6A2):c.1459-2A>G rs749974929
NM_001849.3(COL6A2):c.1522-1G>A rs398123646
NM_001849.3(COL6A2):c.1751delC (p.Pro584Leufs) rs886044398
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.3(COL6A2):c.2284_2285delAT (p.Met762Valfs) rs778129335
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.641_645delACGAC (p.Asn214Ilefs) rs1375040481
NM_001849.3(COL6A2):c.736-7_739delGTTTCAGTGCT rs1555872143
NM_001849.3(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.802-2A>G rs886044399
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.3(COL6A2):c.812G>A (p.Gly271Asp) rs794727788
NM_001849.3(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.856-2A>C rs886044466
NM_001849.3(COL6A2):c.865G>T (p.Gly289Cys) rs886043270
NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.3(COL6A2):c.900+1G>C rs886044261

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