List of variants in gene COL6A1 reported by Mayo Clinic Laboratories, Mayo Clinic

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)	rs144358858	0.00070
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)	rs149338158	0.00031
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)	rs562898957	0.00014
NM_001848.3(COL6A1):c.1461+4A>G	rs201372759	0.00004
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)	rs201153092	0.00003
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)	rs143925936	0.00002
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	rs755589190	0.00001
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)	rs752259110	0.00001
NM_001848.3(COL6A1):c.152G>A (p.Arg51Lys)
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)	rs1085307560
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)	rs147882179
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)	rs763228065
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu)	rs769795690

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