ClinVar Miner

List of variants in gene FIG4 reported as pathogenic by OMIM

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Gene type:
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Total variants: 15
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FIG4, IVS11DS, G-T, +5
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1260_1261del (p.Thr422fs) rs397509394
NM_014845.5(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_014845.5(FIG4):c.2348A>T (p.Asp783Val) rs587777716
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.311G>A (p.Gly104Asp) rs397509395
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.524T>C (p.Leu175Pro) rs397514707
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) rs587777714

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