List of variants in gene COL6A2 reported as not provided for congenital muscular dystrophy

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*56T>G	rs148337125	0.01837
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
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_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	rs374669775	0.00001
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

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