ClinVar Miner

List of variants reported as pathogenic for Nephrotic syndrome, type 9 by OMIM

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Total variants: 7
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NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) rs398122981
NM_024876.4(COQ8B):c.1199dup (p.His400fs) rs398122982
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) rs398122979
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) rs369573693

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