Total 18 pathogenic variants reported for Friedreich ataxia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000144.5(FXN):c.317T>G (p.Leu106Ter) SNV
Germline
Chr9:69053193 Pathogenic Friedreich ataxia No Assertion Criteria Provided
CA252961 rs_104894105

1 SubmittersRCV000004186

NM_000144.5(FXN):c.385-2A>G SNV
Germline
Chr9:69064936 Pathogenic Friedreich ataxia No Assertion Criteria Provided
CA252963 rs_140987490

1 SubmittersRCV000004187

NM_000144.5(FXN):c.460A>T (p.Ile154Phe) SNV
Germline
Chr9:69065013 Pathogenic Friedreich ataxia
Friedreich ataxia 1
Criteria Provided
Single Submitter
CA252964 rs_104894106

2 SubmittersRCV000004188RCV004689408

NM_000144.5(FXN):c.389G>T (p.Gly130Val) SNV
Germline
Chr9:69064942 Conflicting classifications of pathogenicity Friedreich ataxia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA252966 rs_104894107

5 SubmittersRCV000004189RCV000992016

NM_000144.5(FXN):c.3G>T (p.Met1Ile) SNV
Germline
Chr9:69035785 Pathogenic Friedreich ataxia
Condition: not provided
Friedreich ataxia 1
Criteria Provided
Multiple Submitters
No Conflicts
CA252968 rs_104894108

5 SubmittersRCV000004190RCV001579769RCV004017228

NM_000144.5(FXN):c.517T>G (p.Trp173Gly) SNV
Germline
Chr9:69072646 Likely pathogenic Friedreich ataxia No Assertion Criteria Provided
CA252970 rs_56214919

1 SubmittersRCV000004191

NM_000144.5(FXN):c.118C>T (p.Arg40Cys) SNV
Germline
Chr9:69035900 Conflicting classifications of pathogenicity not specified
Hypertrophic cardiomyopathy
Friedreich ataxia 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10587675 rs_145854903

7 SubmittersRCV000507170RCV000852582RCV005365213RCV002311184RCV004591108

NM_000144.5(FXN):c.438C>G (p.Asn146Lys) SNV
Germline
Chr9:69064991 Pathogenic Friedreich ataxia 1 No Assertion Criteria Provided
CA193393064 rs_146818694

1 SubmittersRCV000664219

NM_000144.5(FXN):c.166-5T>G SNV
Germline
Chr9:69046380 Likely pathogenic Friedreich ataxia 1 Criteria Provided
Single Submitter
CA2499219941 rs_2133102338

1 SubmittersRCV001726502

NM_000144.5(FXN):c.482+1G>T SNV
Unknown
Chr9:69065036 Likely pathogenic Friedreich ataxia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720565

NM_000144.5(FXN):c.410G>T (p.Gly137Val) SNV
Germline
Chr9:69064963 Likely pathogenic Friedreich ataxia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005418567