ClinVar Miner

List of variants in gene FIG4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.1389-5C>T rs377752443 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) rs781588508 0.00001
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr) rs1045259801 0.00001
NM_014845.6(FIG4):c.863G>T (p.Gly288Val) rs1057519188 0.00001
NM_014845.6(FIG4):c.1948+5G>T rs756884619
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) rs1583643080
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys) rs571563767
NM_014845.6(FIG4):c.646G>A (p.Gly216Arg)
NM_014845.6(FIG4):c.711A>G (p.Ile237Met)
NM_014845.6(FIG4):c.868A>G (p.Asn290Asp)
NM_014845.6(FIG4):c.964G>T (p.Val322Leu)

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