ClinVar Miner

List of variants reported as likely benign for Marfan and Marfan-related disorder by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033

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