ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_000138.4(FBN1):c.7204G>A (p.Asp2402Asn)
NM_000238.3(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000257.3(MYH7):c.1189A>G (p.Lys397Glu)
NM_000257.4(MYH7):c.2510A>T (p.Lys837Met) rs1060501439
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
NM_001201397.1(EDNRB):c.1283C>T (p.Pro428Leu)
NM_001201397.1(EDNRB):c.823G>A (p.Val275Met)
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889
NM_170707.3(LMNA):c.1116G>C (p.Glu372Asp) rs1553265736
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602

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