ClinVar Miner

List of variants studied for Weill-Marchesani syndrome 4 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 6
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HGVS dbSNP
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
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser)

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