ClinVar Miner

List of variants reported as not provided for optic atrophy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NC_012920.1(MT-ATP6):m.8686T>C rs1569484231
NC_012920.1(MT-ATP6):m.9101T>C rs199476134
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-CYB):m.14831G>A rs199795644
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.4025C>T rs397515509
NC_012920.1(MT-ND1):m.4160T>C rs199476119
NC_012920.1(MT-ND2):m.4640C>A rs387906426
NC_012920.1(MT-ND3):m.10237T>C rs1556423787
NC_012920.1(MT-ND4):m.11253T>C rs200145866
NC_012920.1(MT-ND4):m.11696G>A rs200873900
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.12811T>C rs199974018
NC_012920.1(MT-ND5):m.13637A>G rs200855215
NC_012920.1(MT-ND5):m.13730G>A rs387906425
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
NC_012920.1(MT-ND6):m.14279G>A rs869025187
NC_012920.1(MT-ND6):m.14325T>C rs397515505
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14482C>A rs199476108
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-ND6):m.14498T>C rs869025186
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1230+1G>T rs80356528
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs) rs863225275
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp) rs863225276
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2991del (p.Arg998fs) rs80356531
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter) rs863225274
m.10663T>C rs1556423844
m.12848C>T rs267606899
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14568C>T rs397515506
m.14596A>T rs387906424
m.3376G>A rs397515612
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4171C>A rs28616230
m.5244G>A rs199476115

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