ClinVar Miner

List of variants in gene OPA1 reported as uncertain significance for Autosomal dominant optic atrophy classic form

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.*1919T>A rs867799524 0.00096
NM_130837.3(OPA1):c.*1920C>A rs868274533 0.00095
NM_130837.3(OPA1):c.*2416C>T rs539683627 0.00091
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.*1884C>T rs549889830 0.00046
NM_130837.3(OPA1):c.*694C>A rs190367068 0.00044
NM_130837.3(OPA1):c.*2283A>G rs886058259 0.00043
NM_130837.3(OPA1):c.*1039A>G rs548278496 0.00039
NM_130837.3(OPA1):c.*863A>G rs193292545 0.00032
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_130837.3(OPA1):c.*622C>T rs750359704 0.00016
NM_130837.3(OPA1):c.-8C>T rs371988066 0.00012
NM_130837.3(OPA1):c.*2839C>T rs867048244 0.00011
NM_130837.3(OPA1):c.*2902A>G rs1030937333 0.00011
NM_130837.3(OPA1):c.*322G>A rs886058257 0.00009
NM_130837.3(OPA1):c.-102G>A rs886058255 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.-144T>C rs1057509207 0.00008
NM_130837.3(OPA1):c.*2801A>G rs148268725 0.00006
NM_130837.3(OPA1):c.-3G>A rs964787052 0.00005
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) rs200428940 0.00004
NM_130837.3(OPA1):c.*1266G>A rs932178332 0.00003
NM_130837.3(OPA1):c.*1815T>C rs570796106 0.00003
NM_130837.3(OPA1):c.*2156A>G rs886058258 0.00003
NM_130837.3(OPA1):c.*2694T>A rs886058262 0.00003
NM_130837.3(OPA1):c.*56C>T rs564487151 0.00003
NM_130837.3(OPA1):c.*743G>C rs377022565 0.00003
NM_130837.3(OPA1):c.*403T>C rs779665090 0.00002
NM_130837.3(OPA1):c.*614A>G rs1321516515 0.00002
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile) rs779722414 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.556+2T>G rs762390227 0.00002
NM_130837.3(OPA1):c.*1131C>T rs1004141070 0.00001
NM_130837.3(OPA1):c.*1581A>C rs976048011 0.00001
NM_130837.3(OPA1):c.*2241A>G rs778074372 0.00001
NM_130837.3(OPA1):c.*2861A>G rs1456505503 0.00001
NM_130837.3(OPA1):c.*341G>T rs1042977453 0.00001
NM_130837.3(OPA1):c.-10C>T rs775614028 0.00001
NM_130837.3(OPA1):c.1036-9T>C rs531187028 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 0.00001
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr) rs1166323851 0.00001
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys) rs760177302 0.00001
NM_015560.2(OPA1):c.-182C>A rs532165115
NM_130837.3(OPA1):c.*2170A>G rs921945798
NM_130837.3(OPA1):c.*2234G>A rs1577422301
NM_130837.3(OPA1):c.*260G>T rs886058256
NM_130837.3(OPA1):c.*2692G>A rs886058261
NM_130837.3(OPA1):c.*2909A>T rs886058263
NM_130837.3(OPA1):c.*3147G>C rs886058264
NM_130837.3(OPA1):c.*427A>T rs565230692
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
NM_130837.3(OPA1):c.1149+3A>T rs1733207545
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly) rs1313421147
NM_130837.3(OPA1):c.1377+6T>A
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2524G>A (p.Val842Ile)
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) rs117475774
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
NM_130837.3(OPA1):c.985G>A (p.Val329Ile) rs1347426414
NM_130837.3(OPA1):c.990C>T (p.Leu330=) rs201242590

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