List of variants in gene COL6A2 reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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_001849.4(COL6A2):c.1967C>T (p.Thr656Ile)	rs371386355	0.00017
NM_001849.4(COL6A2):c.*203G>A	rs561873926	0.00012
NM_001849.4(COL6A2):c.1332+3G>A	rs201007156	0.00010
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)	rs761913437	0.00005
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=)	rs150999832	0.00003
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn)	rs1273249543	0.00001
NM_001849.4(COL6A2):c.1333-9_1333-5del	rs1193152104
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr)	rs982087527

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