List of variants in gene FXN reported as pathogenic for cerebellar ataxia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000144.5(FXN):c.389G>T (p.Gly130Val)	rs104894107	0.00004
NM_000144.5(FXN):c.317T>G (p.Leu106Ter)	rs104894105
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)	rs886037630
NM_000144.5(FXN):c.385-2A>G	rs140987490
NM_000144.5(FXN):c.438C>G (p.Asn146Lys)	rs146818694
NM_000144.5(FXN):c.460A>T (p.Ile154Phe)	rs104894106

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