ClinVar Miner

List of variants in gene FBN2 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910
NM_001999.4(FBN2):c.1316G>A (p.Gly439Glu) rs1554066016
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987
NM_001999.4(FBN2):c.1913G>C (p.Ser638Thr) rs886042112
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2555-6T>C rs376507178
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346
NM_001999.4(FBN2):c.3162C>T (p.Arg1054=) rs765015874
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.4(FBN2):c.4100-9G>T rs377002313
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5675-9del rs112666443
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
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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