List of variants in gene MYH7 reported as likely benign for Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy

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

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)	rs45501694	0.00469
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)	rs3729821	0.00267
NM_000257.4(MYH7):c.297C>T (p.Pro99=)	rs140245862	0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)	rs45554236	0.00213
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)	rs145532615	0.00093
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)	rs45508293	0.00082
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)	rs186964570	0.00031
NM_000257.4(MYH7):c.5656-9C>T	rs781212482	0.00021
NM_000257.4(MYH7):c.5656-4G>A	rs397516250	0.00011
NM_000257.4(MYH7):c.4170-8C>A	rs199632504	0.00010
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)	rs121913653	0.00007
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)	rs45523835	0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)	rs754295295	0.00004
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)	rs397516115	0.00003
NM_000257.4(MYH7):c.895+12C>T	rs186276057	0.00003
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)	rs762065412	0.00003
NM_000257.4(MYH7):c.1257+7C>A	rs759480696	0.00001
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)	rs1361182615	0.00001
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)	rs730880727	0.00001
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)	rs746453011
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)	rs1272236852
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)	rs933857323
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)	rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=)	rs138932714
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)	rs200852418
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)	rs763934978
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)	rs28933098

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.