ClinVar Miner

List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by 3billion

Included ClinVar conditions (33):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1714+2T>C rs2141323212
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg) rs1060501022
NM_000138.5(FBN1):c.2342del (p.Cys781fs)
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr) rs2141300503
NM_000138.5(FBN1):c.2830del (p.Asp944fs)
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.3640_3641del (p.Asn1214fs) rs2141291345
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4196_4197insA (p.Phe1400fs)
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) rs1555360027
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) rs727503470

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