ClinVar Miner

List of variants reported as uncertain significance for Weill-Marchesani syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.3462C>T (p.Ile1154=) rs144339604
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4462G>T (p.Val1488Leu)
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=)
NM_000428.2(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.2(LTBP2):c.220G>C (p.Glu74Gln) rs79886273
NM_000428.2(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.2(LTBP2):c.4516G>A (p.Val1506Met) rs117800773
NM_000428.2(LTBP2):c.804_821dup (p.Ala276_Gly277insProGlnSerProProAla) rs554570575
NM_000428.2(LTBP2):c.818C>T (p.Ser273Leu) rs143282840
NM_030957.3(ADAMTS10):c.1920G>A (p.Ser640=)
NM_030957.3(ADAMTS10):c.350C>T (p.Ala117Val)
NM_030957.3(ADAMTS10):c.641C>G (p.Pro214Arg)
NM_139057.3(ADAMTS17):c.168C>T (p.Ala56=) rs886050982
NM_139057.3(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613

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