ClinVar Miner

List of variants in gene FBN2 reported as pathogenic

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Total variants: 32
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HGVS dbSNP
FBN2, IVS30, G-T, -26
GRCh37/hg19 5q23.3(chr5:127744084-127866529)x1
GRCh38/hg38 5q23.3(chr5:128434801-128486349)x1
GRCh38/hg38 5q23.3(chr5:128441672-128565049)x1
NC_000005.10:g.(?_128328686)_(128330705_?)del
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys) rs137852826
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His) rs137852827
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe) rs137852828
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3724+2T>C rs863223570
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp) rs28931602
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys) rs267606802
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg) rs1060503510
NM_001999.4(FBN2):c.4346-2A>G
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_001999.4(FBN2):c.525T>A (p.Cys175Ter) rs863223547
NM_001999.4(FBN2):c.533-1G>C
NM_001999.4(FBN2):c.5917+5G>A rs1561758622
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.7622_7629del (p.His2541fs)
NM_001999.4(FBN2):c.827-2A>G rs1561461125

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