List of variants in gene COL6A2 reported by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1817-8C>A	rs750444649	0.00004
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)	rs727502826	0.00001
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	rs267606747	0.00001
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)	rs1568940242
NM_001849.4(COL6A2):c.2362C>A (p.Leu788Met)	rs1235087612
NM_001849.4(COL6A2):c.531dup (p.Glu178fs)	rs2078415221
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)	rs878854362

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