ClinVar Miner

List of variants in gene FBN2 reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 8
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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.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007

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