ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg) rs2082092886 0.00001
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.271C>T (p.Arg91Cys)
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604

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