ClinVar Miner

List of variants reported as likely pathogenic by Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000432.3(MYL2):c.3G>A (p.Met1Ile) rs1555258369
NM_001458.4(FLNC):c.3547_3548delinsCT (p.Ala1183Leu) rs1131692185
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.4(FLNC):c.6892C>T (p.Pro2298Ser) rs1554401403
NM_004415.4(DSP):c.5051A>G (p.His1684Arg) rs1135401735
NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_032578.3(MYPN):c.458A>G (p.Lys153Arg) rs199476401
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) rs727505038

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.