List of variants in gene COL6A2 reported as uncertain significance 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: 40

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)	rs141233891	0.00122
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)	rs199929757	0.00105
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)	rs151244310	0.00063
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)	rs148029276	0.00052
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)	rs370446082	0.00051
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)	rs377476546	0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)	rs113017484	0.00024
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)	rs201188174	0.00021
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)	rs199606147	0.00019
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)	rs145527336	0.00016
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)	rs145352569	0.00011
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)	rs878854386	0.00009
NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)	rs145450812	0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)	rs774521989	0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His)	rs368064647	0.00005
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)	rs368641951	0.00004
NM_001849.4(COL6A2):c.2494G>A (p.Val832Met)	rs376841327	0.00004
NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)	rs200488881	0.00004
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)	rs530625182	0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His)	rs373782637	0.00004
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)	rs142002945	0.00002
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)	rs138948335	0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)	rs886042922	0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)	rs755782924	0.00001
NM_001849.4(COL6A2):c.2766G>A (p.Val922=)	rs557446829	0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr)	rs777494468	0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)	rs759838639	0.00001
NM_001849.4(COL6A2):c.1142G>C (p.Arg381Thr)	rs1057519185
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)	rs535007570
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)	rs142709940
NM_001849.4(COL6A2):c.1770+1G>A	rs752803039
NM_001849.4(COL6A2):c.1815C>G (p.Cys605Trp)
NM_001849.4(COL6A2):c.1868C>G (p.Ser623Cys)	rs2123661865
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met)	rs2123663062
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val)	rs1555875708
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2626C>T (p.Arg876Cys)	rs387906608
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)	rs398123650
NM_001849.4(COL6A2):c.989A>T (p.Asp330Val)

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