ClinVar Miner

List of variants in gene FIG4 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1948+5G>T rs756884619
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.548G>A (p.Arg183Gln) rs781588508
NM_014845.5(FIG4):c.863G>T (p.Gly288Val) rs1057519188
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) rs1583643080

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