ClinVar Miner

List of variants reported as likely pathogenic for Upshaw-Schulman syndrome

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Total variants: 9
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HGVS dbSNP
NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240
NM_139025.4(ADAMTS13):c.1585-1G>C rs1554789680
NM_139025.4(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139025.4(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139025.4(ADAMTS13):c.330+1G>A
NM_139025.4(ADAMTS13):c.3541delG (p.Gln1183Argfs) rs1060499780
NM_139025.4(ADAMTS13):c.4105_4221del117 (p.Thr1369_Thr1407del) rs1554797078
NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His)
NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287

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