List of variants in gene COL6A3 reported as pathogenic by GeneDx

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.8966-1G>C	rs767517186	0.00004
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)	rs763187844	0.00001
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)	rs761796175
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)	rs777304794
NM_004369.4(COL6A3):c.6156+1G>A	rs1553554298
NM_004369.4(COL6A3):c.6157-2A>C	rs886041434
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)	rs886041329
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)	rs794727188
NM_004369.4(COL6A3):c.6282+1G>A	rs398124128
NM_004369.4(COL6A3):c.6282+1G>C
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)	rs886043113
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)	rs1553544667

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