List of variants reported as benign for Myosin storage myopathy by Illumina Laboratory Services, Illumina

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.189C>T (p.Thr63=)	rs2069540	0.51584
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)	rs7157716	0.43030
NM_000257.4(MYH7):c.732C>T (p.Phe244=)	rs2069542	0.27385
NM_000257.4(MYH7):c.1128C>T (p.Asp376=)	rs2231126	0.15761
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	rs3729830	0.14676
NM_000257.4(MYH7):c.1095G>A (p.Lys365=)	rs735711	0.13859
NM_000257.4(MYH7):c.*113G>A	rs17794387	0.06427
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)	rs735712	0.06133
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)	rs2069543	0.03319
NM_000257.4(MYH7):c.975C>T (p.Asp325=)	rs2231124	0.01865
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)	rs7140196	0.01445
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)	rs3729816	0.01311
NM_000257.4(MYH7):c.3972+15C>T	rs3729820	0.01159
NM_000257.4(MYH7):c.-36C>T	rs45497293	0.01123
NM_000257.4(MYH7):c.597A>G (p.Ala199=)	rs2069541	0.00853
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)	rs2754155	0.00831
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)	rs142034311	0.00098

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.