ClinVar Miner

List of variants in gene FBN2 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_001999.4(FBN2):c.7859G>A (p.Gly2620Glu) rs770728135 0.00003
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu) rs547769591 0.00001

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