ClinVar Miner

List of variants reported as pathogenic for Congenital contractural arachnodactyly

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.(?_128328686)_(128330705_?)del
NC_000005.9:g.(?_127653831)_(127654703_?)del
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys) rs137852826
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg) rs1581230766
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His) rs137852827
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg) rs1750918931
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly) rs1750918931
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe) rs137852828
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.3472+2T>C rs2126903614
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg) rs1750894751
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3598+6T>G
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly) rs1554122857
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.3769T>G (p.Cys1257Gly) rs1750812513
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys) rs267606802
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser) rs1750811749
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly) rs1581223990
NM_001999.4(FBN2):c.3974-26T>G rs2126895611
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr) rs1750792792
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter) rs147046215
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg) rs1060503510
NM_001999.4(FBN2):c.4346-2A>G rs587776518
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
NM_001999.4(FBN2):c.4592_4594+3del rs2126854512
NM_001999.4(FBN2):c.533-1G>C rs1756369186
NM_001999.4(FBN2):c.5917+5G>A rs1561758622
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His) rs1749713036
NM_001999.4(FBN2):c.827-2A>G rs1561461125

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