ClinVar Miner

List of variants reported as uncertain significance for cranial nerve neuropathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_194277.3(FRMD7):c.*600C>G rs750133372 0.00247
NM_025136.4(OPA3):c.*3755G>A rs555830952 0.00225
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_001822.7(CHN1):c.*564G>A rs144057045 0.00155
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_001822.7(CHN1):c.588C>T (p.Asn196=) rs146313212 0.00071
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_194277.3(FRMD7):c.*573G>T rs963218129 0.00064
NM_001822.7(CHN1):c.-36C>T rs775399462 0.00063
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_001173464.2(KIF21A):c.*582G>A rs767760567 0.00058
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_001173464.2(KIF21A):c.*451A>G rs183559712 0.00045
NM_017641.3(KIF21A):c.-345G>A rs886049353 0.00044
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_001822.7(CHN1):c.237A>G (p.Pro79=) rs377261893 0.00038
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_001822.7(CHN1):c.*635A>C rs562879539 0.00026
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_001822.7(CHN1):c.1002A>G (p.Glu334=) rs376051698 0.00020
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_001173464.2(KIF21A):c.-147C>A rs886049348 0.00016
NM_001822.7(CHN1):c.*337G>C rs996643545 0.00016
NM_025136.3(OPA3):c.-96A>G rs566870092 0.00016
NM_130837.3(OPA1):c.*622C>T rs750359704 0.00016
NM_001173464.2(KIF21A):c.-146G>A rs886049347 0.00014
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_001822.7(CHN1):c.628-15C>T rs529028832 0.00012
NM_130837.3(OPA1):c.-8C>T rs371988066 0.00012
NM_194277.3(FRMD7):c.1643A>C (p.Gln548Pro) rs776519156 0.00012
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) rs142717432 0.00011
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_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_001822.7(CHN1):c.*252C>T rs1023136528 0.00009
NM_001822.7(CHN1):c.*756C>T rs759449440 0.00009
NM_017641.3(KIF21A):c.-339C>A rs886049352 0.00009
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_194277.3(FRMD7):c.*285C>T rs766974170 0.00009
NM_194277.3(FRMD7):c.458G>A (p.Cys153Tyr) rs199857416 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_001173464.2(KIF21A):c.825C>T (p.Leu275=) rs143876096 0.00006
NM_001822.7(CHN1):c.-271T>C rs543170770 0.00006
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_194277.3(FRMD7):c.*196G>C rs1057515770 0.00006
NM_194277.3(FRMD7):c.718A>G (p.Ile240Val) rs773037705 0.00006
NM_001822.7(CHN1):c.*309G>A rs540973790 0.00005
NM_001822.7(CHN1):c.-206G>A rs1379842544 0.00005
NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu) rs765652152 0.00005
NM_001822.7(CHN1):c.7C>T (p.Leu3=) rs755734334 0.00005
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_001822.7(CHN1):c.*426C>T rs755474438 0.00004
NM_001822.7(CHN1):c.177C>T (p.Ala59=) rs771446302 0.00004
NM_001822.7(CHN1):c.297C>T (p.Tyr99=) rs35358913 0.00004
NM_001822.7(CHN1):c.500C>T (p.Thr167Ile) rs752956891 0.00004
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_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) rs199576118 0.00004
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) rs751994722 0.00004
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
NM_001822.7(CHN1):c.147-4T>G rs767192888 0.00003
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_194277.3(FRMD7):c.*300T>C rs1029630139 0.00003
NM_194277.3(FRMD7):c.1200G>A (p.Ala400=) rs61751728 0.00003
NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp) rs946251964 0.00003
NM_194277.3(FRMD7):c.1588C>T (p.Pro530Ser) rs200651852 0.00003
NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg) rs773298405 0.00003
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) rs1458182449 0.00002
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) rs749644826 0.00002
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) rs748150530 0.00002
NM_001822.7(CHN1):c.-74C>T rs886055155 0.00002
NM_001822.7(CHN1):c.964+6T>G rs764237103 0.00002
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_001173464.2(KIF21A):c.*326T>A rs886049337 0.00001
NM_001173464.2(KIF21A):c.*531T>C rs1479577907 0.00001
NM_001173464.2(KIF21A):c.268-14G>T rs762377796 0.00001
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) rs886049344 0.00001
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) rs749290916 0.00001
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) rs886049339 0.00001
NM_001173464.2(KIF21A):c.681T>C (p.His227=) rs753495640 0.00001
NM_001822.7(CHN1):c.*154G>A rs529610497 0.00001
NM_001822.7(CHN1):c.*198A>G rs1198628794 0.00001
NM_001822.7(CHN1):c.*422C>T rs1294339436 0.00001
NM_001822.7(CHN1):c.*52T>C rs1211907844 0.00001
NM_001822.7(CHN1):c.*608A>G rs886055153 0.00001
NM_001822.7(CHN1):c.*687_*691del rs886055152 0.00001
NM_001822.7(CHN1):c.193G>A (p.Val65Met) rs370140469 0.00001
NM_001822.7(CHN1):c.550-4G>A rs972339540 0.00001
NM_017641.3(KIF21A):c.-245C>T rs886049350 0.00001
NM_017641.3(KIF21A):c.-392G>C rs886049354 0.00001
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_032273.4(TMEM126A):c.-16G>C rs548326357 0.00001
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) rs546358774 0.00001
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val) rs886048713 0.00001
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val) rs886048714 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_194277.3(FRMD7):c.1646T>A (p.Val549Glu) rs1308080722 0.00001
NM_194277.3(FRMD7):c.285-3C>T rs750320516 0.00001
NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr) rs759784671 0.00001
NM_194277.3(FRMD7):c.58-6G>A rs750979330 0.00001
NM_001173464.2(KIF21A):c.*1010T>C rs886049332
NM_001173464.2(KIF21A):c.*1022A>T rs886049331
NM_001173464.2(KIF21A):c.*1157A>T rs886049330
NM_001173464.2(KIF21A):c.*211C>G rs886049338
NM_001173464.2(KIF21A):c.*366C>T rs1942069691
NM_001173464.2(KIF21A):c.*690T>C rs886049336
NM_001173464.2(KIF21A):c.*690dup rs34373131
NM_001173464.2(KIF21A):c.*845dup rs886049334
NM_001173464.2(KIF21A):c.*935A>G rs886049333
NM_001173464.2(KIF21A):c.-41G>A rs886049346
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) rs375541289
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) rs886049345
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) rs1947443550
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) rs1227646139
NM_001173464.2(KIF21A):c.2418+2T>C rs1565839016
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) rs779688115
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) rs764601859
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) rs148166854
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) rs886049343
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) rs1946526630
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) rs1316892081
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) rs886049342
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) rs1565724893
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) rs1565724702
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) rs1944493997
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) rs886049341
NM_001173464.2(KIF21A):c.44+15C>G rs1478935702
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) rs886049340
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_001822.7(CHN1):c.*214dup rs574270883
NM_001822.7(CHN1):c.*256C>T rs771199357
NM_001822.7(CHN1):c.-104C>T rs886055156
NM_001822.7(CHN1):c.-160C>G rs572040045
NM_001822.7(CHN1):c.-23G>T rs1252265676
NM_001822.7(CHN1):c.-298C>G rs879722535
NM_001822.7(CHN1):c.-353C>T rs1692031513
NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly) rs369847378
NM_001822.7(CHN1):c.225C>G (p.Ser75Arg) rs1452850610
NM_001822.7(CHN1):c.432G>C (p.Glu144Asp) rs886055154
NM_001822.7(CHN1):c.435C>T (p.His145=) rs527929031
NM_001822.7(CHN1):c.628-14dup rs375494218
NM_015560.2(OPA1):c.-182C>A rs532165115
NM_017641.3(KIF21A):c.-203C>G rs886049349
NM_017641.3(KIF21A):c.-335C>G rs886049351
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_032273.4(TMEM126A):c.-98C>G rs2082473214
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) rs768503384
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) rs999281366
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) rs2082541296
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
NM_194277.3(FRMD7):c.*293G>C rs1057515769
NM_194277.3(FRMD7):c.-100G>T rs1057515772
NM_194277.3(FRMD7):c.-102G>A rs1057515773
NM_194277.3(FRMD7):c.384A>G (p.Ser128=) rs1927977937
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg) rs1057515771

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