ClinVar Miner

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

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Total variants: 10
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NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240
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 rs375415632
NM_139025.4(ADAMTS13):c.415-1G>A rs1554785114
NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His) rs148312697
NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287
NM_139025.5(ADAMTS13):c.1585-1G>C rs1554789680
NM_139026.5(ADAMTS13):c.3307+143del rs1060499780
NM_139026.5(ADAMTS13):c.3844_3960del (p.Thr1282_Thr1320del) rs1554797078

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