ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant optic atrophy classic form

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
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.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.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1870+1G>C
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter) rs2109138909
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.2714dup (p.Asn906fs)
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
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.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500

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