List of variants in gene COL6A3 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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)	rs34741387	0.00817
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)	rs146092501	0.00602
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)	rs150165484	0.00131
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.9128G>A (p.Arg3043His)	rs552651651	0.00025
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	rs753966526	0.00006
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)	rs202185764	0.00005
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)	rs140513454	0.00002
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)	rs758376967
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del)	rs756150789
NM_004369.4(COL6A3):c.9234del (p.Lys3078fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.