ClinVar Miner

List of variants in gene FIG4 reported by Inherited Neuropathy Consortium

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) rs1583695317
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs) rs1583695328
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter) rs776090013
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.5(FIG4):c.877-2A>C rs143956557
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383

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