ClinVar Miner

List of variants in gene FIG4 reported as uncertain significance by Genesis Genome Database

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys) rs770831509 0.00006
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213 0.00002
NM_014845.6(FIG4):c.645C>T (p.Ser215=) rs751619327 0.00002
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) rs776185371
NM_014845.6(FIG4):c.1550A>G (p.Lys517Arg) rs1189038219
NM_014845.6(FIG4):c.2132del (p.Ser711fs) rs1583738240
NM_014845.6(FIG4):c.2376+2T>C rs756308787
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) rs1583663645

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