ClinVar Miner

List of variants in gene FXN reported as pathogenic for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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