ClinVar Miner

List of variants in gene FBN2 studied for Connective tissue disease

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Total variants: 48
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HGVS dbSNP
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.168C>T (p.Gly56=) rs778237524
NM_001999.4(FBN2):c.1849+5G>A rs1561426412
NM_001999.4(FBN2):c.1850-9C>T rs199937209
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325
NM_001999.4(FBN2):c.2249-19A>G rs193091226
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile) rs756348656
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3217+13G>A rs572013507
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.4(FBN2):c.3517A>T (p.Thr1173Ser) rs1554123061
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=) rs754193286
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.4(FBN2):c.436+16G>A rs372098570
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.4(FBN2):c.4680C>T (p.Pro1560=) rs377502943
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931
NM_001999.4(FBN2):c.5353+11G>A rs572393472
NM_001999.4(FBN2):c.5353+19C>T rs183524866
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5549-18G>A rs371995872
NM_001999.4(FBN2):c.5800+19T>C rs1027122765
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.7771A>C (p.Thr2591Pro) rs869025429
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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