ClinVar Miner

List of variants in gene MT-ND5 studied for Leber hereditary optic neuropathy

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ND5):m.12338T>C rs201863060
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu) rs267606893
NC_012920.1(MT-ND5):m.12811T>C rs199974018
NC_012920.1(MT-ND5):m.12923G>A rs1603223971
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-ND5):m.13045A>C rs267606895
NC_012920.1(MT-ND5):m.13051G>A rs1131692063
NC_012920.1(MT-ND5):m.13063G>A rs1603224017
NC_012920.1(MT-ND5):m.13094T>C rs1603224029
NC_012920.1(MT-ND5):m.13637A>G rs200855215
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NC_012920.1(MT-ND5):m.13730G>A rs387906425
NC_012920.1(MT-ND5):m.13760C>T rs1603224340
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
m.12848C>T rs267606899

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