List of variants reported as not provided for collagen 6-related myopathy

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

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*56T>G	rs148337125	0.01837
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	rs117725825	0.00233
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)	rs138899581	0.00080
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	rs148038440	0.00066
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)	rs78427077	0.00026
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	rs753966526	0.00006
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	rs201996851	0.00005
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)	rs201227573	0.00004
NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser)	rs746046225	0.00002
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)	rs200167715	0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)	rs532656197	0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)	rs541703064	0.00002
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	rs374669775	0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	rs371505180	0.00001
NM_001848.3(COL6A1):c.1002+6_1002+88del	rs1556425727
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001848.3(COL6A1):c.1056+5G>A	rs886044511
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)	rs1439633596
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	rs535007570
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	rs121912942
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)	rs111630733
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)	rs1574725167
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)	rs2106349155
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6210+5G>A	rs886044593
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883
NM_004370.6(COL12A1):c.8319+1G>C	rs1768416586

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.