ClinVar Miner

List of variants in gene FIG4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.1305G>C (p.Val435=) rs145227623 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 0.00008
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) rs141116831 0.00006
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430 0.00003
NM_014845.6(FIG4):c.2388A>G (p.Gln796=) rs1439788451 0.00003
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly) rs533419433 0.00002
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.858A>G (p.Lys286=)

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