ClinVar Miner

List of variants in gene FBN2 reported as likely pathogenic for Congenital contractural arachnodactyly

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00005
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) rs565227443 0.00001
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr) rs1581226080 0.00001
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.9:g.(?_127666245)_(127668746_?)del
NM_001999.4(FBN2):c.1899del (p.Asn634fs) rs1581250307
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr) rs2479287232
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser) rs2126912100
NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val) rs869025428
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr) rs137852828
NM_001999.4(FBN2):c.3425G>C (p.Cys1142Ser)
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3459GAA[1] (p.Lys1154del) rs1554123139
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) rs1750917259
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly) rs2479809749
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg) rs2479809648
NM_001999.4(FBN2):c.3506G>A (p.Cys1169Tyr)
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_001999.4(FBN2):c.3547T>C (p.Cys1183Arg) rs2479809519
NM_001999.4(FBN2):c.3548G>C (p.Cys1183Ser)
NM_001999.4(FBN2):c.3554G>A (p.Cys1185Tyr)
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp) rs2479809390
NM_001999.4(FBN2):c.3598+4A>G
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.3674G>A (p.Cys1225Tyr)
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
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.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr) rs2479801974
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro) rs2479801847
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe) rs1750811749
NM_001999.4(FBN2):c.3812G>T (p.Gly1271Val)
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg) rs1581223990
NM_001999.4(FBN2):c.3968G>C (p.Cys1323Ser) rs2479800482
NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn) rs1554122802
NM_001999.4(FBN2):c.3974-9A>G rs2479797387
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4093T>G (p.Cys1365Gly)
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe) rs2479792118
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg) rs2479791800
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr) rs886038935
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn) rs2479791649
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly) rs2479786404
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr) rs1750667332
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser) rs1750667332
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr) rs2126888942
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe) rs2126888942
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.4594+2T>C
NM_001999.4(FBN2):c.5917+1del rs2479717329
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr) rs2126833724
NM_001999.4(FBN2):c.6248G>T (p.Cys2083Phe) rs2479684419
NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter) rs1085307066
NM_001999.4(FBN2):c.7849G>T (p.Glu2617Ter) rs2479632082
NM_001999.4(FBN2):c.8084A>G (p.Asp2695Gly)
NM_001999.4(FBN2):c.91C>T (p.Gln31Ter) rs2479828044

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