ClinVar Miner

List of variants reported as risk factor for Hemolytic uremic syndrome, atypical, susceptibility to, 7 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_003647.2(DGKE):c.188G>C (p.Arg63Pro) rs312262694
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695

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