List of variants studied for Ullrich congenital muscular dystrophy 1B by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)	rs267606749	0.00005
NM_001849.4(COL6A2):c.1771-1G>T	rs748035948	0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys)	rs387906607	0.00001
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	rs267606747	0.00001
NM_001849.4(COL6A2):c.1117-10A>G	rs1568931397
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs)	rs1601231322
NM_001849.4(COL6A2):c.1459-2A>G	rs749974929
NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)	rs2517006899
NM_001849.4(COL6A2):c.1771-1G>A	rs748035948
NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del)	rs398122821
NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser)	rs387906608
NM_001849.4(COL6A2):c.801+631_882del
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)	rs267606748

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.