List of variants in gene FIG4 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 5

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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.1141C>T (p.Arg381Ter)	rs377357931	0.00009
NM_014845.6(FIG4):c.1263T>A (p.Tyr421Ter)
NM_014845.6(FIG4):c.718del (p.Ser240fs)	rs1776224762
NM_014845.6(FIG4):c.759del (p.Phe254fs)	rs764717219

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