List of variants in gene COL6A2 reported as likely pathogenic 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)	rs2078657536	0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp)	rs755352246	0.00001
NM_001849.4(COL6A2):c.1572+1G>A	rs1057520717
NM_001849.4(COL6A2):c.1666dup (p.Glu556fs)
NM_001849.4(COL6A2):c.1905G>T (p.Lys635Asn)
NM_001849.4(COL6A2):c.2065G>T (p.Glu689Ter)
NM_001849.4(COL6A2):c.901-2A>C

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