ClinVar Miner

List of variants reported as uncertain significance for Leber hereditary optic neuropathy

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly) rs1315126444 0.00001
NC_012920.1(MT-ATP6):m.8603T>G rs1603221627
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-CYB):m.14795T>C rs1603224896
NC_012920.1(MT-CYB):m.15257G>A rs41518645
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-ND1):m.4216T>C rs1599988
NC_012920.1(MT-ND2):m.4917A>G rs28357980
NC_012920.1(MT-ND4):m.11360A>G rs878928689
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NC_012920.1(MT-ND5):m.13760C>T rs1603224340
NC_012920.1(MT-ND6):m.14500A>T rs1603224760
NC_012920.1(MT-TL1):m.3275C>T rs1057516057

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