ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
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.6511+5G>A rs200608284
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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