List of variants in gene COL6A2 reported as uncertain significance for Ullrich congenital muscular dystrophy 1B

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00115
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)	rs145352569	0.00011
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00007
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)	rs374166613	0.00003
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	rs374669775	0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)	rs770222615	0.00001
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)	rs367693258	0.00001
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.2741_2743del (p.Phe914del)	rs746930351
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)	rs1051148162

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