ClinVar Miner

List of variants studied for Friedreich ataxia 1

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_000144.5(FXN):c.146C>A (p.Thr49Asn) rs995690945 0.00004
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG
NM_000144.5(FXN):c.11_12del (p.Leu4fs) rs143232208
NM_000144.5(FXN):c.165+1338AAG[180] rs193922938
NM_000144.5(FXN):c.166-5T>G rs2133102338
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) rs886037630
NM_000144.5(FXN):c.438C>G (p.Asn146Lys) rs146818694
NM_000144.5(FXN):c.460A>T (p.Ile154Phe) rs104894106
NM_000144.5(FXN):c.482+1G>T
NM_000144.5(FXN):c.483-12_483del

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