ClinVar Miner

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

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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.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.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_003238.6(TGFB2):c.933-6del rs11285412

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