ClinVar Miner

List of variants reported as likely pathogenic for idiopathic disease by Precision Medicine Center, Zhengzhou University

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val) rs145473779 0.00014
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_000278.5(PAX2):c.213-8C>A
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln) rs1554856032
NM_000278.5(PAX2):c.92G>C (p.Arg31Pro)
NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs)
NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln)
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln) rs1860201767
NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg)
NM_024426.6(WT1):c.1367T>G (p.Phe456Cys)
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)
NM_024426.6(WT1):c.1394T>C (p.Phe465Ser)
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1504G>C (p.Asp502His)
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
NM_024426.6(WT1):c.896T>A (p.Leu299Ter)
NM_024876.4(COQ8B):c.1084C>T (p.Arg362Ter)
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347

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