List of variants reported as uncertain significance for Congenital myasthenic syndrome 19

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001368882.1(COL13A1):c.1756C>T (p.Pro586Ser)	rs532274334	0.00012
NM_001368882.1(COL13A1):c.1610A>G (p.Lys537Arg)	rs1015279176	0.00001
NM_001368882.1(COL13A1):c.1859G>A (p.Arg620His)	rs762247152	0.00001
NM_001368882.1(COL13A1):c.750+18G>T	rs757550207	0.00001
NM_001368882.1(COL13A1):c.1880G>A (p.Gly627Glu)
NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=)	rs555259357
NM_001368882.1(COL13A1):c.2141_2142insCT (p.Leu715fs)
NM_001368882.1(COL13A1):c.462+1G>T
NM_001368882.1(COL13A1):c.549+5G>A	rs2134524471
NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)	rs202115626
NM_001368882.1(COL13A1):c.576+5G>A	rs2060807560
NM_001368882.1(COL13A1):c.740G>A (p.Arg247Gln)
NM_001368882.1(COL13A1):c.799C>G (p.Pro267Ala)
NM_001368882.1(COL13A1):c.999+5G>A	rs200322111

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.