ClinVar Miner

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

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Total variants: 16
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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

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