List of variants in gene FIG4 reported as likely pathogenic for Charcot-Marie-Tooth disease

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: 21

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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.1388+1G>A	rs754338522	0.00001
NM_014845.6(FIG4):c.2460-2A>G	rs1458183004	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
NC_000006.11:g.(?_110081433)_(110088118_?)dup
NM_014845.6(FIG4):c.1040-1G>A
NM_014845.6(FIG4):c.1138-1G>A
NM_014845.6(FIG4):c.1271+1G>A
NM_014845.6(FIG4):c.1584-1G>T
NM_014845.6(FIG4):c.165+2T>C
NM_014845.6(FIG4):c.165+2T>G
NM_014845.6(FIG4):c.1749_1750+7del	rs1777296419
NM_014845.6(FIG4):c.1890-2A>G	rs1777909965
NM_014845.6(FIG4):c.1948+1G>A
NM_014845.6(FIG4):c.2376+1G>A
NM_014845.6(FIG4):c.446+2T>C
NM_014845.6(FIG4):c.447-2A>C	rs866895236
NM_014845.6(FIG4):c.498-2A>G	rs1554300952
NM_014845.6(FIG4):c.67-1G>A
NM_014845.6(FIG4):c.876+2T>G	rs2128386656

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