ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000021.8:g.(?_47531371)_(47541057_?)del
NC_000021.8:g.(?_47531391)_(47541037_?)del
NM_001849.3(COL6A2):c.1000-2A>G rs1555873356
NM_001849.3(COL6A2):c.1059del (p.Asp354fs) 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.1459-2A>G rs749974929
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332
NM_001849.3(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.641_645del (p.Asn214fs) rs1375040481
NM_001849.3(COL6A2):c.736-1G>C
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
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.847G>A (p.Gly283Arg) rs267606748
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) rs794727855

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