ClinVar Miner

List of variants reported as pathogenic for Weill-Marchesani syndrome 1

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Total variants: 9
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NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
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

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