ClinVar Miner

List of variants reported as uncertain significance 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: 14
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HGVS dbSNP
NM_000138.4(FBN1):c.164+5A>G rs397515760
NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp) rs878853678
NM_000138.4(FBN1):c.2600A>G (p.Asn867Ser) rs145464311
NM_000138.4(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4727T>C (p.Met1576Thr) rs776625874
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182
NM_000138.4(FBN1):c.793A>T (p.Thr265Ser) rs982468949
NM_000138.4(FBN1):c.8027C>T (p.Pro2676Leu) rs146469379
NM_000138.4(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.4(FBN1):c.83A>G (p.Asn28Ser) rs193922245

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