ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) rs140583
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.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.4(FBN1):c.4460-8G>A rs193922204
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.5546-1G>A rs1566899590
NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
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.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.168C>T (p.Ala56=) rs886050982
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613

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