List of variants in gene COL6A1 reported 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
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1273-8C>T	rs7280215	0.02565
NM_001848.3(COL6A1):c.97+20G>A	rs114178849	0.01230
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.1684A>G (p.Ile562Val)	rs374315921	0.00007
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	rs755589190	0.00001
NM_001848.3(COL6A1):c.1120-12G>A	rs115107397
NM_001848.3(COL6A1):c.1575+1G>A	rs1002726737
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)	rs144671871
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)	rs2077865473
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	rs398123643

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