ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics,University Medical Center Hamburg-Eppendorf

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Total variants: 21
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HGVS dbSNP
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000138.4(FBN1):c.1589-14A>G rs1566915335
NM_000138.4(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.4(FBN1):c.304T>C (p.Cys102Arg) rs1566937712
NM_000138.4(FBN1):c.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.5495G>A (p.Arg1832His) rs764203302
NM_000138.4(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) rs565227443
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002474.3(MYH11):c.3757_3759AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) rs1566999423
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) rs1566999601
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) rs1566999610

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