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

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)	rs200667230	0.00021
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)	rs201188174	0.00021
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)	rs199606147	0.00019
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)	rs145527336	0.00016
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)	rs774521989	0.00005
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)	rs727502829	0.00004
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)	rs768542626	0.00001
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)	rs727502826
NM_001849.4(COL6A2):c.201C>T (p.Leu67=)	rs1601216910
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)	rs1568940242
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val)
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp)	rs2123454544
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)	rs746930351
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)	rs201854898
NM_001849.4(COL6A2):c.955-3C>G	rs1208931749

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