List of variants in gene COL6A1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	rs137964147	0.00057
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)	rs150686304	0.00038
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)	rs368561027	0.00021
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)	rs374685631	0.00009
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)	rs374315921	0.00007
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	rs755589190	0.00001
NM_001848.3(COL6A1):c.2250G>A (p.Gln750=)
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)	rs763228065

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