ClinVar Miner

List of variants reported as pathogenic for Nephrotic syndrome, type 7 by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 4
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NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) rs762576212
NM_003647.3(DGKE):c.1099-2A>T rs1598043201
NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030

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