ClinVar Miner

List of variants reported as likely pathogenic by Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.4(FBN1):c.6828T>G (p.Cys2276Trp) rs1597520625
NM_000138.4(FBN1):c.7204G>A (p.Asp2402Asn) rs1057524757
NM_000138.5(FBN1):c.5329T>C (p.Cys1777Arg) rs1597540907
NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly) rs1597517935
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser) rs397515847
NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu) rs1566535410
NM_000257.4(MYH7):c.2510A>T (p.Lys837Met) rs1060501439
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) rs1566304640
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889
NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_172056.2(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_213569.2(NEBL):c.358-27884del rs768079285

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.