ClinVar Miner

List of variants reported as likely pathogenic for Friedreich ataxia 1

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000144.5(FXN):c.11_12del (p.Leu4fs)	rs143232208
NM_000144.5(FXN):c.166-5T>G	rs2133102338
NM_000144.5(FXN):c.482+1G>T
NM_000144.5(FXN):c.483-12_483del

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