ClinVar Miner

List of variants in gene FIG4 reported as pathogenic

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Gene type:
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Total variants: 41
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HGVS dbSNP
FIG4, IVS11DS, G-T, +5
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
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.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) rs774799167
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2348A>T (p.Asp783Val) rs587777716
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.262C>T (p.Arg88Ter) rs753207473
NM_014845.5(FIG4):c.290-2A>G rs587777715
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.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) rs587777714
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.1150del (p.Arg384fs) rs1583695322
NM_014845.6(FIG4):c.1750+1del
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2429_2430TC[1] (p.Ser811fs)
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
NM_014845.6(FIG4):c.718del (p.Ser240fs)

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