ClinVar Miner

List of variants in gene FBN2 reported as likely pathogenic

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Gene type:
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Total variants: 43
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HGVS dbSNP
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.9:g.(?_127653831)_(127654703_?)del
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp) rs730882230
NM_001999.4(FBN2):c.1339AATGGC[3] (p.447NG[3]) rs863223593
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) rs565227443
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.3136A>G (p.Lys1046Glu)
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg) rs1581230766
NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val) rs869025428
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3459GAA[1] (p.Lys1154del) rs1554123139
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
NM_001999.4(FBN2):c.3486T>G (p.Cys1162Trp) rs1554123064
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_001999.4(FBN2):c.3566A>C (p.His1189Pro) rs863223566
NM_001999.4(FBN2):c.3592T>C (p.Cys1198Arg)
NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly) rs1554122897
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3725-2del rs1554122858
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
NM_001999.4(FBN2):c.3847+1G>T rs863223604
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly) rs1581223990
NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn) rs1554122802
NM_001999.4(FBN2):c.3982G>T (p.Glu1328Ter)
NM_001999.4(FBN2):c.4055G>C (p.Cys1352Ser)
NM_001999.4(FBN2):c.4100-2A>C rs1581222180
NM_001999.4(FBN2):c.4154T>C (p.Leu1385Pro) rs1581222106
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4550G>A (p.Cys1517Tyr) rs1057521951
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) rs886038942
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr) rs1554075372
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)
NM_001999.4(FBN2):c.6638-2A>C rs886039200
NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter) rs1085307066

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