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 (8):
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Minimum conflict level:
ClinVar version:
Total variants: 24
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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.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=) rs142602984
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg) rs1555741490
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) rs145922030
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379

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