ClinVar Miner

List of variants reported as likely pathogenic for Weill-Marchesani syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054

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