ClinVar Miner

List of variants in gene OPA1 reported as benign for optic atrophy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.*1343A>G rs1056366 0.65902
NM_130837.3(OPA1):c.*283A>G rs1061648 0.61309
NM_130837.3(OPA1):c.*1113C>T rs12630 0.54101
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.*2092C>T rs1056390 0.46950
NM_130837.3(OPA1):c.*2391T>C rs11719309 0.46817
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_130837.3(OPA1):c.*2873A>T rs10419 0.10858
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_130837.3(OPA1):c.*2408A>G rs73069788 0.00927
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_130837.3(OPA1):c.*623G>A rs146468889 0.00689
NM_130837.3(OPA1):c.*1031A>T rs114606850 0.00670
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.*220A>G rs76421015 0.00427
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.*376A>G rs142349183 0.00211
NM_015560.2(OPA1):c.-172T>A rs146295726 0.00129
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.*2993C>A rs143991575 0.00094
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.*2115G>A rs144079165 0.00021
NM_130837.3(OPA1):c.678+13G>C rs561115644 0.00006
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_130837.3(OPA1):c.*1610C>A rs73069785
NM_130837.3(OPA1):c.*560T>C rs7643844

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