List of variants in gene COL6A3 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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_004369.4(COL6A3):c.1786G>T (p.Ala596Ser)	rs34934127	0.02035
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	rs80272723	0.01000
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)	rs77632596	0.00808
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=)	rs76576170	0.00714
NM_004369.4(COL6A3):c.4285+9G>A	rs75780727	0.00613
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)	rs73998894	0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)	rs146092501	0.00602
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)	rs138466455	0.00110
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)	rs113153193	0.00075
NM_004369.4(COL6A3):c.2210G>T (p.Ser737Ile)	rs1553561974
NM_004369.4(COL6A3):c.5126T>A (p.Val1709Glu)	rs1553556583
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)	rs886043113

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