List of variants in gene COL6A1 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)	rs145579577	0.00143
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)	rs182425338	0.00140
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)	rs148439285	0.00135
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)	rs138976133	0.00134
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)	rs143695871	0.00132
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=)	rs146662894	0.00112
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)	rs141620374	0.00110
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)	rs150432347	0.00081
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)	rs201525908	0.00052
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)	rs150686304	0.00038
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)	rs141605607	0.00026
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=)	rs200023632	0.00019
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)	rs190043330	0.00014
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)	rs371763977	0.00011
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln)	rs200261890	0.00006

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