ClinVar Miner

List of variants studied for Thrombotic thrombocytopenic purpura by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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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.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)
NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)

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