ClinVar Miner

List of variants reported for Hypertrophic cardiomyopathy 8 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000258.3(MYL3):c.130-14G>T rs192329378 0.00198
NM_000258.3(MYL3):c.*112C>A rs546968708 0.00036
NM_000258.3(MYL3):c.307+16G>A rs759754750 0.00029
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser) rs779557153 0.00002
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp) rs761891361 0.00001
NM_000258.3(MYL3):c.507G>A (p.Val169=) rs1166390418 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala) rs374329098 0.00001
NM_000258.3(MYL3):c.71C>T (p.Ala24Val) rs373278317 0.00001
NM_000258.3(MYL3):c.*13G>A
NM_000258.3(MYL3):c.158-2A>G rs1701985013
NM_000258.3(MYL3):c.158-3C>G rs111668273
NM_000258.3(MYL3):c.170C>T (p.Ala57Val) rs139794067
NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs) rs1702012642
NM_000258.3(MYL3):c.308-3C>T rs112911997
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) rs1085307526
NM_000258.3(MYL3):c.79C>G (p.Pro27Ala) rs1248338056

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.