ClinVar Miner

List of variants studied for hereditary optic atrophy by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_025136.4(OPA3):c.11G>A (p.Gly4Asp)
NM_025136.4(OPA3):c.308G>A (p.Arg103His)
NM_130837.3(OPA1):c.1241_1245del (p.Leu414fs)
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del) rs1064795403
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897

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