List of variants in gene FIG4 reported as pathogenic for Charcot-Marie-Tooth disease type 4J

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	rs776005417	0.00022
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)	rs377357931	0.00009
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)	rs753207473	0.00004
NM_014845.6(FIG4):c.2459+1G>A	rs747768373	0.00003
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)	rs587777713	0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)	rs587777714	0.00002
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)	rs1368013631	0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	rs745790694	0.00001
NM_014845.6(FIG4):c.290-2A>T	rs587777715	0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	rs121908288	0.00001
NM_014845.6(FIG4):c.2174dup (p.Leu726fs)	rs1562685713
NM_014845.6(FIG4):c.290-2A>G	rs587777715
NM_014845.6(FIG4):c.294del (p.Phe98fs)	rs1562648373
NM_014845.6(FIG4):c.759del (p.Phe254fs)	rs764717219
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)

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