List of variants in gene MYH7 reported as likely pathogenic by Blueprint Genetics

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	rs200939753	0.00009
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)	rs730880870	0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	rs121913630	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	rs397516202	0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro)	rs397516089
NM_000257.4(MYH7):c.1178C>T (p.Ala393Val)	rs869025477
NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu)	rs1060501452
NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr)	rs730880159
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)	rs730880159
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)	rs606231324
NM_000257.4(MYH7):c.1627G>A (p.Ala543Thr)	rs730880160
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)	rs397516122
NM_000257.4(MYH7):c.1888+1G>A	rs113186231
NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn)	rs1595084560
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser)	rs730880734
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)	rs397516165
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys)	rs730880161
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)	rs730880154
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn)	rs730880781
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)	rs397516207
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)	rs730880816
NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)	rs869025483
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)	rs397516260
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)	rs397516262
NM_000257.4(MYH7):c.789A>G (p.Ile263Met)	rs730880855
NM_000257.4(MYH7):c.860A>G (p.Tyr287Cys)	rs587782961

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.