ClinVar Miner

List of variants studied for Nephrotic syndrome, type 9 by Precision Medicine Center, Zhengzhou University

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_024876.4(COQ8B):c.1035+3A>G rs368182892 0.00009
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00005
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_024876.4(COQ8B):c.1084C>T (p.Arg362Ter) rs146616224 0.00003
NM_024876.4(COQ8B):c.1468C>T (p.Arg490Cys) rs750037594 0.00003
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604 0.00003
NM_024876.4(COQ8B):c.1465C>T (p.His489Tyr) rs139063940 0.00001
NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys) rs866812916 0.00001
NM_024876.4(COQ8B):c.893+2T>A rs759259550 0.00001
NM_024876.4(COQ8B):c.1297-2A>G rs1599922006
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.33del (p.Thr12fs) rs2082170216

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