ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant optic atrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_025136.4(OPA3):c.*3755G>A rs555830952 0.00225
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_025136.4(OPA3):c.*2490C>T rs11671670 0.00117
NM_130837.3(OPA1):c.*1919T>A rs867799524 0.00096
NM_130837.3(OPA1):c.*1920C>A rs868274533 0.00095
NM_025136.4(OPA3):c.*5357G>A rs549141863 0.00092
NM_130837.3(OPA1):c.*2416C>T rs539683627 0.00091
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_025136.4(OPA3):c.*6674T>C rs534603782 0.00056
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
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_025136.4(OPA3):c.*1213C>T rs539298843 0.00040
NM_130837.3(OPA1):c.*1039A>G rs548278496 0.00039
NM_025136.4(OPA3):c.*6902G>A rs528812143 0.00037
NM_130837.3(OPA1):c.*863A>G rs193292545 0.00032
NM_025136.4(OPA3):c.*1070C>T rs146989248 0.00030
NM_025136.4(OPA3):c.*4372G>A rs573344031 0.00028
NM_025136.4(OPA3):c.*5660A>G rs935989223 0.00027
NM_025136.4(OPA3):c.*1091C>G rs557691359 0.00026
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_025136.4(OPA3):c.*3891C>T rs752997579 0.00021
NM_025136.4(OPA3):c.*5570C>T rs766783593 0.00021
NM_025136.4(OPA3):c.*5739C>T rs375835737 0.00020
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 0.00019
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_025136.4(OPA3):c.*3278C>T rs770317628 0.00018
NM_025136.4(OPA3):c.*5597C>T rs560019290 0.00018
NM_025136.3(OPA3):c.-96A>G rs566870092 0.00016
NM_130837.3(OPA1):c.*622C>T rs750359704 0.00016
NM_025136.4(OPA3):c.*1018A>G rs534682712 0.00014
NM_025136.4(OPA3):c.*5045C>T rs573380409 0.00014
NM_025136.4(OPA3):c.*649C>T rs886054537 0.00014
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_025136.4(OPA3):c.*5258A>G rs886054512 0.00010
NM_025136.4(OPA3):c.*1863T>G rs769185702 0.00009
NM_025136.4(OPA3):c.*4773A>G rs1409082190 0.00009
NM_025136.4(OPA3):c.*5496C>T rs886054511 0.00009
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_025136.4(OPA3):c.*3644C>T rs914226398 0.00008
NM_025136.4(OPA3):c.*4521G>A rs886054521 0.00008
NM_025136.4(OPA3):c.*5873C>T rs886054509 0.00008
NM_130837.3(OPA1):c.-144T>C rs1057509207 0.00008
NM_025136.4(OPA3):c.*6361G>A rs1020767023 0.00007
NM_025136.4(OPA3):c.*821A>T rs886054536 0.00007
NM_025136.4(OPA3):c.*2545G>A rs886054528 0.00006
NM_025136.4(OPA3):c.*4233G>A rs576081836 0.00006
NM_025136.4(OPA3):c.*4585C>T rs886054520 0.00006
NM_025136.4(OPA3):c.*4618G>A rs1165606483 0.00006
NM_025136.4(OPA3):c.*6278G>A rs886054507 0.00006
NM_130837.3(OPA1):c.*2801A>G rs148268725 0.00006
NM_025136.4(OPA3):c.*1462C>T rs978328141 0.00005
NM_025136.4(OPA3):c.*4586G>A rs886054519 0.00005
NM_025136.4(OPA3):c.*5730C>T rs1308663626 0.00005
NM_130837.3(OPA1):c.-3G>A rs964787052 0.00005
NM_025136.4(OPA3):c.*3845C>T rs886054525 0.00004
NM_025136.4(OPA3):c.*6125G>A rs780617440 0.00004
NM_025136.4(OPA3):c.*6570G>C rs773109015 0.00004
NM_025136.4(OPA3):c.*761C>T rs1020788721 0.00004
NM_025136.4(OPA3):c.*922G>T rs886054535 0.00004
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) rs200428940 0.00004
NM_025136.4(OPA3):c.*1214G>A rs368652706 0.00003
NM_025136.4(OPA3):c.*1693C>T rs904110306 0.00003
NM_025136.4(OPA3):c.*2089T>C rs886054529 0.00003
NM_025136.4(OPA3):c.*3754C>T rs981647131 0.00003
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_025136.4(OPA3):c.*420A>G rs868102539 0.00002
NM_025136.4(OPA3):c.*5644A>G rs1393651897 0.00002
NM_025136.4(OPA3):c.*6124C>T rs1389766474 0.00002
NM_025136.4(OPA3):c.*964G>A rs1969350328 0.00002
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_025136.4(OPA3):c.*1063G>A rs1384983234 0.00001
NM_025136.4(OPA3):c.*1193A>G rs1969345485 0.00001
NM_025136.4(OPA3):c.*1496C>T rs938973035 0.00001
NM_025136.4(OPA3):c.*1799A>G rs886054530 0.00001
NM_025136.4(OPA3):c.*2041C>G rs1200054696 0.00001
NM_025136.4(OPA3):c.*2620C>A rs528208456 0.00001
NM_025136.4(OPA3):c.*322A>G rs886054539 0.00001
NM_025136.4(OPA3):c.*3472G>A rs1305422353 0.00001
NM_025136.4(OPA3):c.*3581C>T rs576070088 0.00001
NM_025136.4(OPA3):c.*4464G>T rs886054522 0.00001
NM_025136.4(OPA3):c.*4763C>A rs549495140 0.00001
NM_025136.4(OPA3):c.*5888C>T rs886054508 0.00001
NM_025136.4(OPA3):c.*6046G>A rs1010630541 0.00001
NM_025136.4(OPA3):c.*6461C>T rs886054505 0.00001
NM_025136.4(OPA3):c.*6773G>T rs886054504 0.00001
NM_025136.4(OPA3):c.*7072A>T rs1247746346 0.00001
NM_025136.4(OPA3):c.*7183G>A rs941194280 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853 0.00001
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser) rs753632531 0.00001
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_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*2188G>A rs1969330324
NM_025136.4(OPA3):c.*2198C>T rs1969330113
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2662G>A rs1969322157
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2726G>C rs993813343
NM_025136.4(OPA3):c.*2859A>T rs534780094
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C rs1969317127
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3156G>T rs1969314043
NM_025136.4(OPA3):c.*3245C>T rs1969312880
NM_025136.4(OPA3):c.*3295C>G rs1969311980
NM_025136.4(OPA3):c.*3358C>G rs965480314
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T rs1969307390
NM_025136.4(OPA3):c.*3669G>T rs1024454874
NM_025136.4(OPA3):c.*3804G>A rs890552307
NM_025136.4(OPA3):c.*4241C>T rs375276027
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4771C>G rs972332094
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T rs567309052
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*6766C>T rs978118927
NM_025136.4(OPA3):c.*690G>T rs1969355536
NM_025136.4(OPA3):c.*713C>G rs143735864
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.1839G>A (p.Glu613=) rs1734784679
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) rs117475774
NM_130837.3(OPA1):c.985G>A (p.Val329Ile) rs1347426414
NM_130837.3(OPA1):c.990C>T (p.Leu330=) rs201242590

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