ClinVar Miner

List of variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 329
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HGVS dbSNP
GRN, 1-BP DEL, 102C
GRN, 1-BP DEL, 154A
GRN, 1-BP DEL, 998G
GRN, IVS0DS, G-C, +5
GRN, IVS6AS, A-G, -2
GRN, IVS6AS, G-A, -1
GRN, IVS7AS, A-G, -2
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1248+8T>C rs362382
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) rs63750730
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
NM_000021.4(PSEN1):c.514_516TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139T>A rs4988463
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.*140A>T rs33936108
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000306.4(POU1F1):c.666-6C>T rs201995103
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_001131005.2(MEF2C):c.-143+4180_-143+4193del rs1085307051
NM_001251902.2(TNK1):c.393C>G (p.His131Gln)
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)
NM_002087.3(GRN):c.*280G>A rs116547342
NM_002087.3(GRN):c.-100A>G rs956983853
NM_002087.3(GRN):c.-173C>T rs886053004
NM_002087.3(GRN):c.-179G>C rs886053003
NM_002087.3(GRN):c.-212G>A rs886053002
NM_002087.3(GRN):c.-38T>C rs530686556
NM_002087.3(GRN):c.-45C>G rs563336550
NM_002087.3(GRN):c.-72G>T rs76783532
NM_002087.3(GRN):c.100C>G (p.Pro34Ala) rs748147151
NM_002087.3(GRN):c.1083_1084GA[2] (p.Asp363fs) rs1567887576
NM_002087.3(GRN):c.1120_1122TCC[1] (p.Ser375del) rs754862784
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.3(GRN):c.1179+6T>C rs765761482
NM_002087.3(GRN):c.1179G>A (p.Glu393=) rs1567887777
NM_002087.3(GRN):c.1212C>A (p.Cys404Ter) rs193026789
NM_002087.3(GRN):c.1227G>A (p.Thr409=) rs140298583
NM_002087.3(GRN):c.1246dup (p.Cys416fs) rs794729671
NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) rs200645022
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) rs114248177
NM_002087.3(GRN):c.139-3T>C rs371119011
NM_002087.3(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.3(GRN):c.1414-2A>G rs1555611412
NM_002087.3(GRN):c.1446C>A (p.Cys482Ter) rs1567888461
NM_002087.3(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.3(GRN):c.146G>A (p.Trp49Ter) rs1598362746
NM_002087.3(GRN):c.1641C>T (p.Arg547=) rs149658268
NM_002087.3(GRN):c.1647C>T (p.Gly549=) rs745391227
NM_002087.3(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.3(GRN):c.1736G>A (p.Arg579His) rs373138049
NM_002087.3(GRN):c.228C>T (p.Thr76=) rs144736470
NM_002087.3(GRN):c.229G>A (p.Val77Ile) rs148531161
NM_002087.3(GRN):c.232dup (p.Ser78fs) rs1567885658
NM_002087.3(GRN):c.250T>C (p.Cys84Arg) rs1598362876
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.268G>A (p.Val90Met) rs200019356
NM_002087.3(GRN):c.349+1G>C rs1598363083
NM_002087.3(GRN):c.350-50_350-47dup rs34424835
NM_002087.3(GRN):c.385dup (p.Ser129fs) rs1567886206
NM_002087.3(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.3(GRN):c.393C>G (p.Phe131Leu) rs149180605
NM_002087.3(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.3(GRN):c.424dup (p.Met142fs) rs1598363490
NM_002087.3(GRN):c.42G>A (p.Leu14=) rs111435385
NM_002087.3(GRN):c.442G>A (p.Gly148Arg) rs375343686
NM_002087.3(GRN):c.462+1G>C rs794729669
NM_002087.3(GRN):c.497C>T (p.Pro166Leu) rs368705304
NM_002087.3(GRN):c.513C>T (p.Cys171=) rs147974849
NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) rs1567886445
NM_002087.3(GRN):c.53C>T (p.Thr18Met) rs199572314
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.560del (p.Leu187fs) rs1567886478
NM_002087.3(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002087.3(GRN):c.708+6_708+9del rs778599933
NM_002087.3(GRN):c.709-4_713del rs1598364296
NM_002087.3(GRN):c.723C>T (p.Ser241=) rs200408271
NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs) rs63751035
NM_002087.3(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.3(GRN):c.776dup (p.Cys260fs) rs1567887015
NM_002087.3(GRN):c.803C>T (p.Thr268Met) rs202006119
NM_002087.3(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.3(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.3(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.3(GRN):c.835+1G>A rs606231221
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.3(GRN):c.836-3C>T rs771907059
NM_002087.3(GRN):c.87dup (p.Cys30fs) rs794729672
NM_002087.3(GRN):c.882T>G (p.Tyr294Ter) rs794729670
NM_002087.3(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.3(GRN):c.907del (p.Ala303fs) rs1555611256
NM_002087.3(GRN):c.918C>A (p.Cys306Ter) rs1598364782
NM_002087.3(GRN):c.933+7A>T rs1598364800
NM_002087.3(GRN):c.93_96dup (p.Asp33fs) rs606231220
NM_002087.3(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_002087.4(GRN):c.*12G>T
NM_002087.4(GRN):c.*246A>G
NM_002087.4(GRN):c.*273C>T
NM_002087.4(GRN):c.*30G>A
NM_002087.4(GRN):c.*78C>T rs5848
NM_002087.4(GRN):c.-22C>T
NM_002087.4(GRN):c.-8+3A>C
NM_002087.4(GRN):c.-8+5G>C rs63750313
NM_002087.4(GRN):c.1019A>T (p.His340Leu)
NM_002087.4(GRN):c.1179+4_1179+8del
NM_002087.4(GRN):c.1180-8C>A
NM_002087.4(GRN):c.1180-8C>T
NM_002087.4(GRN):c.1226C>T (p.Thr409Met)
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg)
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537
NM_002087.4(GRN):c.138+1G>A rs63749844
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294
NM_002087.4(GRN):c.1518C>T (p.Thr506=)
NM_002087.4(GRN):c.1521C>T (p.Phe507=)
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.4(GRN):c.1548G>T (p.Val516=)
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp)
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754
NM_002087.4(GRN):c.170T>G (p.Leu57Arg)
NM_002087.4(GRN):c.264G>A (p.Glu88=) rs63751166
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088
NM_002087.4(GRN):c.2T>C (p.Met1Thr) rs63751006
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646
NM_002087.4(GRN):c.3G>A (p.Met1Ile) rs63750331
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.4(GRN):c.57G>T (p.Arg19=)
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787
NM_002087.4(GRN):c.709-12G>C
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.835+14G>C
NM_002087.4(GRN):c.836-1G>C rs63751296
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.4(GRN):c.933+15C>T
NM_002087.4(GRN):c.933+1G>A rs63750707
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002087.4(GRN):c.99C>A (p.Asp33Glu)
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002397.5(MEF2C):c.-208del rs886060864
NM_006610.4(MASP2):c.*184C>T rs115750484
NM_006610.4(MASP2):c.*225T>C rs1033638
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845
NM_007375.3(TARDBP):c.*1008T>G rs141412238
NM_007375.3(TARDBP):c.*1081C>T rs184303021
NM_007375.3(TARDBP):c.*1084A>T rs886045041
NM_007375.3(TARDBP):c.*129T>C rs886045036
NM_007375.3(TARDBP):c.*1597_*1600del rs748047297
NM_007375.3(TARDBP):c.*159A>C rs886045037
NM_007375.3(TARDBP):c.*1622A>T rs551513393
NM_007375.3(TARDBP):c.*1623T>A rs566657331
NM_007375.3(TARDBP):c.*1633del rs886045043
NM_007375.3(TARDBP):c.*1795A>G rs886045044
NM_007375.3(TARDBP):c.*2005T>C rs886045045
NM_007375.3(TARDBP):c.*2029C>T rs886045046
NM_007375.3(TARDBP):c.*2046T>G rs886045047
NM_007375.3(TARDBP):c.*208G>A rs148414479
NM_007375.3(TARDBP):c.*214T>C rs557787340
NM_007375.3(TARDBP):c.*2154G>T rs886045048
NM_007375.3(TARDBP):c.*2252A>G rs552057039
NM_007375.3(TARDBP):c.*2294_*2295insGTTTT rs3059695
NM_007375.3(TARDBP):c.*2331A>G rs114897688
NM_007375.3(TARDBP):c.*2334G>A rs182302907
NM_007375.3(TARDBP):c.*2360C>T rs886045049
NM_007375.3(TARDBP):c.*2538del rs886045050
NM_007375.3(TARDBP):c.*2740G>A rs566658679
NM_007375.3(TARDBP):c.*2750G>A rs779882516
NM_007375.3(TARDBP):c.*2773A>G rs187380325
NM_007375.3(TARDBP):c.*2829dup rs886045051
NM_007375.3(TARDBP):c.*505del rs886045038
NM_007375.3(TARDBP):c.*666G>A rs778834503
NM_007375.3(TARDBP):c.*842G>A rs886045039
NM_007375.3(TARDBP):c.*862G>T rs886045040
NM_007375.3(TARDBP):c.*963C>T rs751628760
NM_007375.3(TARDBP):c.-110C>T rs577981181
NM_007375.3(TARDBP):c.-117G>A rs886045031
NM_007375.3(TARDBP):c.-12-10_-12-9del rs575825467
NM_007375.3(TARDBP):c.-122G>A rs11121679
NM_007375.3(TARDBP):c.-126G>T rs886045030
NM_007375.3(TARDBP):c.-42C>T rs886045033
NM_007375.3(TARDBP):c.-77G>A rs886045032
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_007375.3(TARDBP):c.238+9C>T rs376560308
NM_007375.3(TARDBP):c.239-15G>A rs200066188
NM_007375.3(TARDBP):c.499A>G (p.Met167Val) rs886045035
NM_007375.3(TARDBP):c.675A>G (p.Pro225=) rs61741294
NM_007375.3(TARDBP):c.720G>A (p.Ala240=) rs765175133
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) rs1570725499
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1190G>T rs115892684
NM_014043.4(CHMP2B):c.*1503G>C rs1060238
NM_014043.4(CHMP2B):c.*1589G>A rs1060241
NM_014043.4(CHMP2B):c.*1641A>C rs886058912
NM_014043.4(CHMP2B):c.*899T>A rs186472338
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_016835.4(MAPT):c.1108C>T (p.Arg370Trp) rs17651549
NM_016835.4(MAPT):c.1131C>A (p.Arg377=) rs776028517
NM_016835.4(MAPT):c.120C>T (p.Asp40=) rs191362093
NM_016835.4(MAPT):c.1280C>T (p.Ser427Phe) rs143956882
NM_016835.4(MAPT):c.1339T>C (p.Ser447Pro) rs10445337
NM_016835.4(MAPT):c.1398G>A (p.Thr466=) rs139748238
NM_016835.4(MAPT):c.1403T>C (p.Ile468Thr) rs114635790
NM_016835.4(MAPT):c.1405G>A (p.Ala469Thr) rs143624519
NM_016835.4(MAPT):c.1413G>A (p.Pro471=) rs201046056
NM_016835.4(MAPT):c.1482C>T (p.Pro494=) rs750910229
NM_016835.4(MAPT):c.1483G>A (p.Ala495Thr) rs63750612
NM_016835.4(MAPT):c.14G>A (p.Arg5His) rs63750959
NM_016835.4(MAPT):c.1507+2364C>T rs187760483
NM_016835.4(MAPT):c.1507+2367C>G rs267604921
NM_016835.4(MAPT):c.1577G>A (p.Arg526His) rs115492908
NM_016835.4(MAPT):c.1606C>T (p.Pro536Ser) rs1598326219
NM_016835.4(MAPT):c.1609A>C (p.Thr537Pro) rs1598326279
NM_016835.4(MAPT):c.1666G>A (p.Ala556Thr) rs63750096
NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) rs63750349
NM_016835.4(MAPT):c.1749G>A (p.Leu583=) rs373081497
NM_016835.4(MAPT):c.1761G>A (p.Pro587=) rs11568305
NM_016835.4(MAPT):c.1766G>T (p.Gly589Val) rs63750376
NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) rs63750756
NM_016835.4(MAPT):c.1789_1791AAG[1] (p.Lys598del) rs63750688
NM_016835.4(MAPT):c.1839T>C (p.Asn613=) rs63750912
NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser) rs63751438
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn) rs63751165
NM_016835.4(MAPT):c.1866+11T>C rs63751394
NM_016835.4(MAPT):c.1866+13A>G rs63750308
NM_016835.4(MAPT):c.1866+14C>T rs63750972
NM_016835.4(MAPT):c.1866+16C>T rs63751011
NM_016835.4(MAPT):c.1866+1G>A rs1568327531
NM_016835.4(MAPT):c.1866+29G>A rs63751443
NM_016835.4(MAPT):c.1866T>C (p.Ser622=) rs63750568
NM_016835.4(MAPT):c.1901A>T (p.Lys634Met) rs63750092
NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) rs63750635
NM_016835.4(MAPT):c.1959G>C (p.Gln653His) rs1598408073
NM_016835.4(MAPT):c.1960G>A (p.Val654Met) rs63750570
NM_016835.4(MAPT):c.1976A>T (p.Glu659Val) rs63750711
NM_016835.4(MAPT):c.2003A>G (p.Gln668Arg) rs1568339821
NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) rs63750869
NM_016835.4(MAPT):c.2041C>A (p.Pro681Thr) rs1598408336
NM_016835.4(MAPT):c.2088C>T (p.Arg696=) rs373462041
NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) rs63750424
NM_016835.4(MAPT):c.2181T>C (p.Asn727=) rs115381139
NM_016835.4(MAPT):c.271G>A (p.Ala91Thr) rs371071165
NM_016835.4(MAPT):c.272C>T (p.Ala91Val) rs780582778
NM_016835.4(MAPT):c.284C>T (p.Thr95Met) rs138293088
NM_016835.4(MAPT):c.349G>A (p.Glu117Lys)
NM_016835.4(MAPT):c.405_415del (p.Phe136fs) rs768990943
NM_016835.4(MAPT):c.418C>T (p.Pro140Ser) rs151115928
NM_016835.4(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_016835.4(MAPT):c.616G>T (p.Ala206Ser) rs1321460540
NM_016835.4(MAPT):c.623del (p.Gly208fs) rs773149360
NM_016835.4(MAPT):c.62G>T (p.Gly21Val) rs781076528
NM_016835.4(MAPT):c.637G>A (p.Gly213Arg) rs76375268
NM_016835.4(MAPT):c.664C>A (p.Arg222Ser) rs150983093
NM_016835.4(MAPT):c.687C>G (p.Pro229=) rs142327009
NM_016835.4(MAPT):c.689A>G (p.Gln230Arg) rs63750072
NM_016835.4(MAPT):c.748G>A (p.Ala250Thr) rs770014302
NM_016835.4(MAPT):c.783G>A (p.Ala261=) rs200385096
NM_016835.4(MAPT):c.798C>G (p.Pro266=) rs1382449748
NM_016835.4(MAPT):c.890C>T (p.Ala297Val) rs377402921
NM_016835.4(MAPT):c.912C>T (p.His304=) rs142283842
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)
NM_020814.3(MARCHF4):c.39G>C (p.Trp13Cys) rs145386484
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu) rs756981946
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu)
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) rs762890407
NP_002078.1(GRN):p.Ser449_Thr455del

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