ClinVar Miner

List of variants reported as pathogenic for autosomal dominant optic atrophy

Included ClinVar conditions (14):
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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NC_000019.10:g.(?_45584613)_(45584774_?)del
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr) rs1064794656
NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu) rs1555119216
NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala) rs1555229948
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) rs1592631789
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC rs1969382362
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu) rs28939082
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1150-1G>A rs879255510
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) rs879255511
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val) rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) rs1577244261
NM_130837.3(OPA1):c.1519del (p.Val507fs) rs879255512
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr) rs879255592
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys) rs121908376
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter) rs772382178
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs) rs1577297114
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp) rs387906901
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.2991del (p.Arg998fs) rs80356531
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs) rs879255513
NM_130837.3(OPA1):c.357del (p.Phe119fs) rs1728905695
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.556+1G>A rs1577162868
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile) rs557939077
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887

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