List of variants in gene COL6A2 reported as likely benign by Eurofins NTD LLC (GA)

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=)	rs61735830	0.00258
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	rs117725825	0.00233
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=)	rs140027285	0.00229
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)	rs144482400	0.00202
NM_001849.4(COL6A2):c.81G>A (p.Ser27=)	rs111639540	0.00199
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)	rs147194375	0.00185
NM_001849.4(COL6A2):c.483C>T (p.Thr161=)	rs138312213	0.00163
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=)	rs112197239	0.00156
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=)	rs150219725	0.00130
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)	rs141233891	0.00122
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)	rs144484744	0.00112
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)	rs199929757	0.00105
NM_001849.4(COL6A2):c.2982C>T (p.Ala994=)	rs145460820	0.00048
NM_001849.4(COL6A2):c.928-9C>T	rs200571090	0.00048
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)	rs144801620	0.00016
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)	rs75581470	0.00013
NM_001849.4(COL6A2):c.138C>T (p.His46=)	rs201753549	0.00009
NM_001849.4(COL6A2):c.2880G>A (p.Ser960=)	rs375430758	0.00007
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=)	rs189341312	0.00004
NM_001849.4(COL6A2):c.1215T>C (p.Pro405=)	rs558981930
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	rs535007570
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)	rs142709940
NM_001849.4(COL6A2):c.1817-3del	rs149954350
NM_001849.4(COL6A2):c.1817-4_1817-3dup	rs149954350
NM_001849.4(COL6A2):c.2462-5dup	rs797044699
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln)	rs61735831

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