ClinVar Miner

List of variants reported as pathogenic for Weill-Marchesani syndrome

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
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.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.4(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) rs1555396783
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_030957.4(ADAMTS10):c.1190+1G>A rs431825170
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) rs267606636
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) rs267606637
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) rs121434357
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) rs121434358
NM_030957.4(ADAMTS10):c.810+1G>A rs387906266
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) rs121434359
NM_139057.4(ADAMTS17):c.1721+1G>A
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052

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