ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic for Inborn genetic diseases

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg)	rs2077379276	0.00001
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883

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