List of variants in gene COL6A2 reported by Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)	rs200710788	0.00116
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00115
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)	rs139399166	0.00031
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)	rs367658663	0.00025
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)	rs140404854	0.00020
NM_001849.4(COL6A2):c.2220_2222del (p.Asp741del)	rs753220080

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