ClinVar Miner

List of variants reported as pathogenic for autosomal recessive distal myopathy by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410

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