ClinVar Miner

List of variants reported as likely pathogenic for Marfan and Marfan-related disorder by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_000138.5(FBN1):c.1462T>G (p.Cys488Gly) rs1555400373
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val) rs397515806
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853

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