List of variants reported as likely benign for Marfan and Marfan-related disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)	rs28763954	0.00654
NM_001999.4(FBN2):c.738G>A (p.Ala246=)	rs150087436	0.00200
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)	rs143255082	0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)	rs138022198	0.00158
NM_001999.4(FBN2):c.953-8T>G	rs201818403	0.00152
NM_001999.4(FBN2):c.2555-7A>G	rs28763949	0.00137
NM_001999.4(FBN2):c.8364+7A>T	rs185052980	0.00134
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)	rs28763920	0.00120
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)	rs201255083	0.00110
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)	rs139686090	0.00081
NM_001999.4(FBN2):c.7012+7G>A	rs199735209	0.00042
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)	rs143907156	0.00033

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