ClinVar Miner

List of variants reported for Hypertrophic cardiomyopathy 1 by Genetics and Molecular Pathology, SA Pathology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu) rs774540446 0.00001
NM_000257.4(MYH7):c.853A>G (p.Ile285Val) rs748692506 0.00001
NM_000257.4(MYH7):c.1315A>G (p.Met439Val) rs370310929
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) rs2138645175
NM_000257.4(MYH7):c.983A>G (p.Glu328Gly)

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.