List of variants studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 by OMIM

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	rs34006675	0.03359
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	rs267606814	0.00002
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)	rs119463990	0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)	rs119463991	0.00001
NM_001079802.2(FKTN):c.5374_5846del
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	rs398123555
NM_001079802.2(FKTN):c.187_188del (p.Met63fs)	rs587777813
NM_001079802.2(FKTN):c.454dup (p.Ser152fs)	rs587777748
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)	rs119464997
NM_006731.2(FKTN):c.4392_4393ins[AB185332.1]
NM_006731.2:c.911-24_911-23insN[1200]

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.