List of variants in gene COL6A3 reported as likely 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_004369.4(COL6A3):c.4285+1G>T	rs1574701592
NM_004369.4(COL6A3):c.4624C>T (p.Gln1542Ter)	rs1553557696
NM_004369.4(COL6A3):c.5662_5670del (p.Ser1888_Val1890del)	rs2077539093
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)	rs886043737
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg)	rs372697731
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter)	rs748966916
NM_004369.4(COL6A3):c.761del (p.Gly254fs)	rs780921503

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