ClinVar Miner

List of variants in gene ADAMTS13 reported as pathogenic for Thrombotic thrombocytopenic purpura

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val) rs1554785242 0.00002
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg) rs1554791280

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