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