ClinVar Miner

List of variants reported as uncertain significance for cranial nerve neuropathy

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 591
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) rs202243737 0.00484
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
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_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
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_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
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_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
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_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) rs150159842 0.00024
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 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_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu) rs193121821 0.00016
NM_130837.3(OPA1):c.*622C>T rs750359704 0.00016
NM_005461.5(MAFB):c.577C>T (p.His193Tyr) rs771536349 0.00015
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_198721.4(COL25A1):c.130G>A (p.Val44Met) rs201162812 0.00014
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
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_001098.3(ACO2):c.2051G>A (p.Arg684Gln) rs200345386 0.00011
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_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_025136.4(OPA3):c.*5258A>G rs886054512 0.00010
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu) rs148387972 0.00010
NM_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) rs886037884 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_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
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_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
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_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_130837.3(OPA1):c.*2801A>G rs148268725 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 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_001377265.1(MAPT):c.10C>A (p.Pro4Thr) rs974837695 0.00004
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys) rs770274373 0.00004
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala) rs778220343 0.00004
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_005461.5(MAFB):c.393C>A (p.His131Gln) rs121912307 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_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
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_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) rs199576118 0.00004
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) rs751994722 0.00004
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_001822.7(CHN1):c.147-4T>G rs767192888 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 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_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr) rs755841329 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_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
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_005461.5(MAFB):c.617G>A (p.Ser206Asn) rs909242045 0.00002
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) rs778455371 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_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 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_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) rs1348263627 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
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_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 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_001822.7(CHN1):c.80C>G (p.Ala27Gly) rs1689781072 0.00001
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr) rs202153128 0.00001
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu) rs1290466873 0.00001
NM_005461.5(MAFB):c.457G>C (p.Asp153His) rs893483748 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.197C>T (p.Thr66Met) rs753129998 0.00001
NM_025136.4(OPA3):c.224C>T (p.Ala75Val) rs769541845 0.00001
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln) rs1599964564 0.00001
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg) rs375471439 0.00001
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys) rs1346674058 0.00001
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly) rs372640359 0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853 0.00001
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg) rs1364874488 0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr) rs374639297 0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr) rs774281852 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_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr) rs1327054264 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.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 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_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 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
46;XX;inv(14)(q24.1q32.1)dn
46;XX;inv(5)(q14q33)dn
46;XX;t(1;13)(q11.2;p11.2)dn
46;XY;t(16;20)(q11.2;q13.2)dn
46;XY;t(1;14)(q42;q13)
46;XY;t(1;3)(p22;q21)dn
46;XY;t(2;14)(p23;q13)dn
46;XY;t(4;14)(p14;q11.2)dn
46;XY;t(4;14)(p15.32;q32.1)dn
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
GRCh37/hg19 9q31.3(chr9:111624558-111812725)
GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1
NC_012920.1(MT-CYB):m.14795T>C rs1603224896
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1:m.11360A>G rs878928689
NC_012920.1:m.11443A>C rs1556423952
NC_012920.1:m.3275C>T rs1057516057
NC_012920.1:m.7373A>G rs1057516060
NC_012920.1:m.8851T>C rs199476136
NM_000273.3(GPR143):c.131G>A (p.Gly44Asp)
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001098.3(ACO2):c.1348C>T (p.Pro450Ser)
NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)
NM_001098.3(ACO2):c.2015A>C (p.Glu672Ala)
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) rs2066638829
NM_001098.3(ACO2):c.317C>T (p.Ala106Val) rs2146115810
NM_001098.3(ACO2):c.75C>T (p.Val25=) rs1057518833
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.10G>A (p.Ala4Thr)
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.1674-1G>A
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.2516C>T (p.Pro839Leu) rs1592198426
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.4602_4606del (p.Thr1535fs)
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_001256012.3(MYH10):c.220G>A (p.Asp74Asn)
NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)
NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu) rs2122623348
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter) rs1558223606
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup) rs61462443
NM_001351601.3(INTS6L):c.359del (p.Phe119_Leu120insTer) rs782242788
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324
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.361T>G (p.Leu121Val)
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_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del) rs752249344
NM_003458.4(BSN):c.7374GCAGCAGCAGCT[1] (p.2459QQQL[1]) rs759806020
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
NM_004115.4(FGF14):c.193+3C>T
NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
NM_005246.4(FER):c.1887A>C (p.Gln629His)
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr) rs750186410
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg) rs1567765029
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly) rs1315126444
NM_006617.2(NES):c.23A>T (p.Glu8Val)
NM_006796.3(AFG3L2):c.1013C>A (p.Ala338Glu)
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) rs199760382
NM_012062.5(DNM1L):c.1289G>A (p.Arg430His) rs2137523963
NM_012064.4(MIP):c.513del (p.His172fs) rs1868688386
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg) rs758233530
NM_014263.4(YME1L1):c.278C>G (p.Ser93Cys)
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)
NM_015560.2(OPA1):c.-182C>A rs532165115
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_017641.3(KIF21A):c.-203C>G rs886049349
NM_017641.3(KIF21A):c.-335C>G rs886049351
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
NM_021926.4(ALX4):c.2T>C (p.Met1Thr) rs1475499990
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
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_025136.4(OPA3):c.115A>G (p.Thr39Ala)
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
NM_025136.4(OPA3):c.127C>G (p.Leu43Val) rs2122529195
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu) rs2122529178
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
NM_025136.4(OPA3):c.142+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.142+3_142+6del
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.145T>C (p.Tyr49His) rs1384629048
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser) rs2122529643
NM_025136.4(OPA3):c.182T>C (p.Met61Thr) rs1052079541
NM_025136.4(OPA3):c.201del (p.Ile68fs)
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr) rs760083523
NM_025136.4(OPA3):c.206_258del (p.Lys69fs) rs2122440115
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
NM_025136.4(OPA3):c.239G>T (p.Gly80Val) rs2122440257
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
NM_025136.4(OPA3):c.274G>A (p.Val92Met) rs752893027
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
NM_025136.4(OPA3):c.293T>G (p.Val98Gly) rs967310075
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg) rs1555732924
NM_025136.4(OPA3):c.301T>C (p.Tyr101His) rs1969377552
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys) rs80356525
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
NM_025136.4(OPA3):c.317C>T (p.Ala106Val) rs764633370
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu) rs758982194
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro) rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val) rs2122438899
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln) rs775398472
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp) rs750946088
NM_025136.4(OPA3):c.514C>T (p.His172Tyr) rs1293731096
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu) rs1302916174
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
NM_025136.4(OPA3):c.81del (p.Lys28fs)
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp) rs1194417590
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) rs2067593629
NM_032273.4(TMEM126A):c.-98C>G rs2082473214
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) rs768503384
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp) rs374124838
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) rs999281366
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) rs2082541296
NM_032730.5(RTN4IP1):c.-328G>T
NM_032730.5(RTN4IP1):c.1007T>A (p.Val336Asp)
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle) rs2114690778
NM_032730.5(RTN4IP1):c.275-1299T>C
NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)
NM_032730.5(RTN4IP1):c.508C>T (p.Pro170Ser) rs2114677058
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
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.113_130del (p.Arg38_Ser43del) rs863224140
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.1839G>A (p.Glu613=) rs1734784679
NM_130837.3(OPA1):c.1846G>C (p.Glu616Gln) rs1157991384
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.267G>T (p.Trp89Cys) rs1728788655
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
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys) rs1554534086
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
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.285-12A>G rs1486391487
NM_194277.3(FRMD7):c.384A>G (p.Ser128=) rs1927977937
NM_194277.3(FRMD7):c.810T>G (p.Thr270=)
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg) rs1057515771
m.13708G>A rs28359178
m.15257G>A rs41518645
m.4216T>C rs1599988
m.4917A>G rs28357980

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