ClinVar Miner

List of variants studied for Marfan and Marfan-related disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658

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