ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP
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.2084G>A (p.Arg695His) rs143722436
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2555-6T>C rs376507178
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.4100-9G>T rs377002313
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118

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