List of variants in gene COL6A2 studied for Myosclerosis; Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)	rs145352569	0.00011
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)	rs374166613	0.00003
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile)	rs752359061	0.00001
NM_001849.4(COL6A2):c.955-10C>T	rs751105293	0.00001
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)

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