List of variants in gene COL6A1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001848.3(COL6A1):c.1003-1G>A	rs886043330
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)	rs121912935
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)	rs2077759104
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)	rs1603590637
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	rs398123643
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu)	rs1603590649

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