List of variants in gene MYH7 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 37

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	rs587782962	0.00008
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	rs121913630	0.00002
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	rs121913625	0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	rs121913627	0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)	rs727504239	0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	rs121913637	0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	rs397516161	0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	rs267606908	0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	rs121913631	0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	rs397516201	0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	rs397516202	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)	rs121913633	0.00001
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)	rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)	rs397516089
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)	rs727503269
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	rs121913624
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)	rs121913642
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	rs121913626
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	rs397516127
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr)	rs727503261
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)	rs727503253
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)	rs397516171
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	rs397516248
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	rs397516254
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	rs397516264
NM_000257.4(MYH7):c.732+1G>A	rs730880850
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)	rs397516269
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)	rs730880856

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.