ClinVar Miner

List of variants reported as uncertain significance for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 510
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_002087.4(GRN):c.*246A>G rs552375884 0.00096
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_002087.4(GRN):c.1180-3C>T rs368307425 0.00036
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) rs63750787 0.00029
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002087.4(GRN):c.287A>G (p.His96Arg) rs139272628 0.00018
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly) rs139796158 0.00014
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_002087.4(GRN):c.1555G>A (p.Val519Met) rs141111290 0.00010
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) rs763841075 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_002087.4(GRN):c.-22C>T rs572309824 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) rs375439809 0.00009
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) rs368705304 0.00009
NM_002087.4(GRN):c.53C>T (p.Thr18Met) rs199572314 0.00009
NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn) rs201458656 0.00008
NM_002087.3(GRN):c.-100A>G rs956983853 0.00008
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys) rs138984221 0.00006
NM_001377265.1(MAPT):c.1802G>A (p.Arg601His) rs115492908 0.00006
NM_001377265.1(MAPT):c.220+2475G>A rs63751135 0.00006
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu) rs769331823 0.00006
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr) rs553119528 0.00006
NM_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 0.00006
NM_002087.4(GRN):c.268G>A (p.Val90Met) rs200019356 0.00006
NM_002087.4(GRN):c.361G>A (p.Val121Met) rs780731069 0.00006
NM_002087.4(GRN):c.442G>A (p.Gly148Arg) rs375343686 0.00006
NM_002087.4(GRN):c.56G>A (p.Arg19Gln) rs764665710 0.00006
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys) rs752345618 0.00006
NM_002087.4(GRN):c.128G>A (p.Arg43His) rs766068311 0.00005
NM_002087.4(GRN):c.1540G>A (p.Val514Met) rs142926942 0.00005
NM_002087.4(GRN):c.634C>T (p.Arg212Trp) rs139375860 0.00005
NM_002087.4(GRN):c.803C>T (p.Thr268Met) rs202006119 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) rs746691776 0.00004
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys) rs556147068 0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) rs115865530 0.00004
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_001377265.1(MAPT):c.220+2491C>T rs780582778 0.00004
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser) rs769901930 0.00004
NM_001377265.1(MAPT):c.62G>T (p.Gly21Val) rs781076528 0.00004
NM_002087.4(GRN):c.1145C>T (p.Thr382Met) rs768333369 0.00004
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) rs148213321 0.00004
NM_002087.4(GRN):c.1226C>T (p.Thr409Met) rs373885474 0.00004
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly) rs780159686 0.00004
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) rs63750754 0.00004
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg) rs145344570 0.00004
NM_002087.4(GRN):c.1721G>A (p.Arg574His) rs756117423 0.00004
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) rs63750455 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_001377265.1(MAPT):c.2035G>A (p.Val679Ile) rs149280278 0.00003
NM_001377265.1(MAPT):c.220+2490G>A rs371071165 0.00003
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr) rs149023078 0.00003
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) rs63750130 0.00003
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) rs201686997 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 0.00003
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) rs758322775 0.00003
NM_002087.4(GRN):c.827C>T (p.Ala276Val) rs202178902 0.00003
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) rs63750565 0.00003
NM_001377265.1(MAPT):c.1355G>A (p.Arg452His) rs200710643 0.00002
NM_001377265.1(MAPT):c.220+2503C>T rs138293088 0.00002
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys) rs63750191 0.00002
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys) rs762595428 0.00002
NM_002087.4(GRN):c.103G>A (p.Gly35Arg) rs533451404 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.139-3T>C rs371119011 0.00002
NM_002087.4(GRN):c.1433G>A (p.Arg478His) rs140747584 0.00002
NM_002087.4(GRN):c.157C>G (p.Leu53Val) rs906652114 0.00002
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) rs768297331 0.00002
NM_002087.4(GRN):c.208G>A (p.Gly70Ser) rs772381732 0.00002
NM_002087.4(GRN):c.238A>T (p.Thr80Ser) rs1022228740 0.00002
NM_002087.4(GRN):c.325G>A (p.Gly109Arg) rs766292113 0.00002
NM_002087.4(GRN):c.421G>A (p.Val141Ile) rs63749853 0.00002
NM_002087.4(GRN):c.502G>A (p.Gly168Ser) rs753070659 0.00002
NM_002087.4(GRN):c.530G>A (p.Arg177His) rs753441122 0.00002
NM_002087.4(GRN):c.835+14G>C rs753286440 0.00002
NM_002087.4(GRN):c.836-3C>T rs771907059 0.00002
NM_002087.4(GRN):c.989C>T (p.Thr330Met) rs376059429 0.00002
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly) rs1018763711 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp) rs777427451 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala) rs771002035 0.00001
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val) rs747363386 0.00001
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile) rs750585566 0.00001
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977 0.00001
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr) rs115239819 0.00001
NM_001377265.1(MAPT):c.1351+5G>C rs1211967572 0.00001
NM_001377265.1(MAPT):c.1366A>G (p.Lys456Glu) rs762213614 0.00001
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu) rs116231676 0.00001
NM_001377265.1(MAPT):c.1808G>A (p.Arg603His) rs780895519 0.00001
NM_001377265.1(MAPT):c.1814C>T (p.Pro605Leu) rs1472402760 0.00001
NM_001377265.1(MAPT):c.1985C>T (p.Pro662Leu) rs1047467075 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn) rs748310006 0.00001
NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met) rs63750991 0.00001
NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp) rs2072603923 0.00001
NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys) rs373705830 0.00001
NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe) rs1430583458 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_002087.3(GRN):c.-173C>T rs886053004 0.00001
NM_002087.3(GRN):c.-179G>C rs886053003 0.00001
NM_002087.4(GRN):c.*12G>T rs775440171 0.00001
NM_002087.4(GRN):c.*273C>T rs971394484 0.00001
NM_002087.4(GRN):c.*30G>A rs374114836 0.00001
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) rs748147151 0.00001
NM_002087.4(GRN):c.1019A>T (p.His340Leu) rs775196555 0.00001
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe) rs1480952239 0.00001
NM_002087.4(GRN):c.1138C>G (p.Gln380Glu) rs748829798 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu) rs956013468 0.00001
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) rs63750920 0.00001
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu) rs775888774 0.00001
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu) rs749595402 0.00001
NM_002087.4(GRN):c.1288C>G (p.Pro430Ala) rs200645022 0.00001
NM_002087.4(GRN):c.1352C>T (p.Pro451Leu) rs752428000 0.00001
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) rs751072702 0.00001
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) rs63750007 0.00001
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys) rs781387612 0.00001
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) rs774128685 0.00001
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile) rs772784579 0.00001
NM_002087.4(GRN):c.1486G>A (p.Glu496Lys) rs764615963 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 0.00001
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln) rs753857985 0.00001
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys) rs748764855 0.00001
NM_002087.4(GRN):c.1736G>A (p.Arg579His) rs373138049 0.00001
NM_002087.4(GRN):c.22G>A (p.Val8Met) rs774367010 0.00001
NM_002087.4(GRN):c.250T>C (p.Cys84Arg) rs1598362876 0.00001
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) rs1275075189 0.00001
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) rs375678079 0.00001
NM_002087.4(GRN):c.38G>C (p.Gly13Ala) rs1457930333 0.00001
NM_002087.4(GRN):c.394G>A (p.Glu132Lys) rs770662203 0.00001
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) rs751651838 0.00001
NM_002087.4(GRN):c.568A>C (p.Lys190Gln) rs768727709 0.00001
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) rs542613543 0.00001
NM_002087.4(GRN):c.620T>C (p.Met207Thr) rs776198499 0.00001
NM_002087.4(GRN):c.62C>T (p.Pro21Leu) rs745947095 0.00001
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) rs768033215 0.00001
NM_002087.4(GRN):c.902C>T (p.Ser301Leu) rs1026683055 0.00001
NM_014043.4(CHMP2B):c.*1641A>C rs886058912 0.00001
NM_020814.3(MARCHF4):c.631A>G (p.Lys211Glu) rs756981946 0.00001
NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) rs762890407 0.00001
NC_000014.8:g.(?_73683814)_(73685997_?)dup
NC_000017.10:g.(?_43861911)_(44159928_?)del
NC_000017.10:g.(?_44039704)_(44101537_?)dup
NC_000017.11:g.(?_44027807)_(44352876_?)dup
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) rs138871096
NM_000021.4(PSEN1):c.1051C>T (p.His351Tyr)
NM_000021.4(PSEN1):c.1060A>G (p.Thr354Ala)
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu) rs1019919048
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
NM_000021.4(PSEN1):c.1132G>A (p.Gly378Arg)
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
NM_000021.4(PSEN1):c.1181G>A (p.Gly394Asp)
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) rs759538127
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) rs777734426
NM_000021.4(PSEN1):c.1249-6C>A
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn) rs1900050658
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.1388A>G (p.His463Arg)
NM_000021.4(PSEN1):c.221C>G (p.Thr74Arg)
NM_000021.4(PSEN1):c.235G>A (p.Ala79Thr)
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) rs1897874234
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) rs1007193620
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln) rs63750378
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
NM_000021.4(PSEN1):c.421A>G (p.Ser141Gly)
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) rs1566630910
NM_000021.4(PSEN1):c.442A>C (p.Ile148Leu)
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.47T>G (p.Met16Arg)
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile) rs1898533490
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) rs63750577
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) rs2140093212
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys) rs1898776259
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
NM_000021.4(PSEN1):c.73A>G (p.Thr25Ala)
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr) rs1899028511
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.836A>T (p.Asn279Ile)
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
NM_000021.4(PSEN1):c.869-3C>A rs2140125016
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
NM_000021.4(PSEN1):c.918A>C (p.Gln306His) rs1256981707
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys) rs2140125296
NM_001377265.1(MAPT):c.1007C>T (p.Ala336Val)
NM_001377265.1(MAPT):c.134A>T (p.Glu45Val)
NM_001377265.1(MAPT):c.1367A>G (p.Lys456Arg)
NM_001377265.1(MAPT):c.1375G>A (p.Asp459Asn)
NM_001377265.1(MAPT):c.1378G>A (p.Gly460Arg)
NM_001377265.1(MAPT):c.1568G>A (p.Arg523Gln)
NM_001377265.1(MAPT):c.159G>C (p.Glu53Asp)
NM_001377265.1(MAPT):c.1607G>C (p.Gly536Ala)
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met) rs759212591
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu) rs780585825
NM_001377265.1(MAPT):c.1670A>C (p.Gln557Pro)
NM_001377265.1(MAPT):c.1673C>T (p.Ala558Val)
NM_001377265.1(MAPT):c.1678G>A (p.Ala560Thr)
NM_001377265.1(MAPT):c.1700C>T (p.Thr567Ile)
NM_001377265.1(MAPT):c.1703C>T (p.Pro568Leu) rs1273925499
NM_001377265.1(MAPT):c.1733-3del rs2074473044
NM_001377265.1(MAPT):c.1749_1750del (p.Asp585fs) rs2145830963
NM_001377265.1(MAPT):c.1757G>A (p.Arg586His)
NM_001377265.1(MAPT):c.1762G>A (p.Gly588Ser) rs1400315970
NM_001377265.1(MAPT):c.1777G>A (p.Gly593Ser)
NM_001377265.1(MAPT):c.1795G>A (p.Gly599Ser)
NM_001377265.1(MAPT):c.179G>T (p.Gly60Val)
NM_001377265.1(MAPT):c.1802G>T (p.Arg601Leu)
NM_001377265.1(MAPT):c.1811C>A (p.Thr604Asn) rs763356972
NM_001377265.1(MAPT):c.1831C>T (p.Pro611Ser) rs1598326219
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro) rs1598326279
NM_001377265.1(MAPT):c.1837C>T (p.Arg613Trp)
NM_001377265.1(MAPT):c.1838G>A (p.Arg613Gln)
NM_001377265.1(MAPT):c.1873C>A (p.Pro625Thr)
NM_001377265.1(MAPT):c.1900C>T (p.Arg634Cys)
NM_001377265.1(MAPT):c.1918G>A (p.Val640Met) rs369217369
NM_001377265.1(MAPT):c.1918G>C (p.Val640Leu)
NM_001377265.1(MAPT):c.1957G>A (p.Gly653Ser)
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu) rs2074495003
NM_001377265.1(MAPT):c.1993G>A (p.Gly665Arg)
NM_001377265.1(MAPT):c.1999-9C>G
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2015A>G (p.Lys672Arg)
NM_001377265.1(MAPT):c.201G>C (p.Lys67Asn)
NM_001377265.1(MAPT):c.2078C>G (p.Pro693Arg)
NM_001377265.1(MAPT):c.2086G>A (p.Gly696Ser)
NM_001377265.1(MAPT):c.2091+11T>G
NM_001377265.1(MAPT):c.2097A>C (p.Gln699His)
NM_001377265.1(MAPT):c.2101G>T (p.Val701Phe)
NM_001377265.1(MAPT):c.2126A>C (p.Lys709Thr)
NM_001377265.1(MAPT):c.2173+4G>A
NM_001377265.1(MAPT):c.2173G>T (p.Gly725Ter) rs2076012350
NM_001377265.1(MAPT):c.2174-5T>A
NM_001377265.1(MAPT):c.220+2437_220+2438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAATCTCGGTGGTTTCT
NM_001377265.1(MAPT):c.220+2451C>G rs760729741
NM_001377265.1(MAPT):c.220+2487G>C
NM_001377265.1(MAPT):c.220+2531G>A
NM_001377265.1(MAPT):c.220+5del
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg) rs1568339821
NM_001377265.1(MAPT):c.2258C>A (p.Thr753Asn)
NM_001377265.1(MAPT):c.2286+6G>T rs2076343277
NM_001377265.1(MAPT):c.2312G>A (p.Arg771His)
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp) rs144397565
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val) rs144397565
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr) rs2146224075
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val) rs991713081
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val) rs2145574715
NM_001377265.1(MAPT):c.2404A>C (p.Asn802His)
NM_001377265.1(MAPT):c.2416A>G (p.Thr806Ala)
NM_001377265.1(MAPT):c.2419G>A (p.Gly807Ser)
NM_001377265.1(MAPT):c.2452G>A (p.Ala818Thr)
NM_001377265.1(MAPT):c.2467G>A (p.Glu823Lys)
NM_001377265.1(MAPT):c.251G>C (p.Ser84Thr)
NM_001377265.1(MAPT):c.286+4A>G
NM_001377265.1(MAPT):c.31A>C (p.Met11Leu)
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001377265.1(MAPT):c.4G>T (p.Ala2Ser)
NM_001377265.1(MAPT):c.630_640del (p.Phe211fs) rs768990943
NM_001377265.1(MAPT):c.848G>A (p.Gly283Asp)
NM_001377265.1(MAPT):c.848del (p.Gly283fs) rs773149360
NM_001377265.1(MAPT):c.89_90delinsAA (p.Thr30Lys)
NM_002087.3(GRN):c.-212G>A rs886053002
NM_002087.4(GRN):c.-8+3A>C rs63751020
NM_002087.4(GRN):c.-8+5G>A
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile)
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr)
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln)
NM_002087.4(GRN):c.100C>G (p.Pro34Ala) rs748147151
NM_002087.4(GRN):c.1010A>G (p.Gln337Arg)
NM_002087.4(GRN):c.1011G>C (p.Gln337His)
NM_002087.4(GRN):c.1019A>G (p.His340Arg) rs775196555
NM_002087.4(GRN):c.101C>A (p.Pro34His)
NM_002087.4(GRN):c.101C>T (p.Pro34Leu)
NM_002087.4(GRN):c.1035G>A (p.Met345Ile)
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) rs751373342
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg)
NM_002087.4(GRN):c.1076C>T (p.Ala359Val)
NM_002087.4(GRN):c.1081A>G (p.Lys361Glu)
NM_002087.4(GRN):c.1087_1088del (p.Asp363fs) rs1567887576
NM_002087.4(GRN):c.1102_1104del (p.Asn368del)
NM_002087.4(GRN):c.110C>T (p.Ala37Val) rs1248005591
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr)
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.1152G>T (p.Gly384=) rs2143342232
NM_002087.4(GRN):c.1156_1179del (p.Trp386_Glu393del)
NM_002087.4(GRN):c.116A>T (p.Tyr39Phe)
NM_002087.4(GRN):c.1171A>G (p.Ile391Val)
NM_002087.4(GRN):c.1179+4_1179+8del rs752440929
NM_002087.4(GRN):c.1179+6T>C rs765761482
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp)
NM_002087.4(GRN):c.1180-8C>A rs774308165
NM_002087.4(GRN):c.1192T>C (p.Ser398Pro)
NM_002087.4(GRN):c.1204C>G (p.His402Asp)
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser)
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg)
NM_002087.4(GRN):c.124T>G (p.Cys42Gly)
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro)
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn)
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg)
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys) rs199934385
NM_002087.4(GRN):c.1267G>A (p.Val423Met)
NM_002087.4(GRN):c.1281G>T (p.Glu427Asp)
NM_002087.4(GRN):c.1295G>A (p.Arg432His)
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg)
NM_002087.4(GRN):c.1326C>G (p.Ile442Met)
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg)
NM_002087.4(GRN):c.1337A>G (p.Gln446Arg)
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu)
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile)
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg)
NM_002087.4(GRN):c.1353G>A (p.Pro451=)
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del)
NM_002087.4(GRN):c.1355T>A (p.Val452Glu) rs759134554
NM_002087.4(GRN):c.1355T>C (p.Val452Ala)
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg) rs63750537
NM_002087.4(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.4(GRN):c.1413T>C (p.His471=)
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg)
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys)
NM_002087.4(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.4(GRN):c.147G>C (p.Trp49Cys)
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg)
NM_002087.4(GRN):c.1499T>C (p.Val500Ala) rs1256051695
NM_002087.4(GRN):c.149C>T (p.Pro50Leu)
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) rs1313083314
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu)
NM_002087.4(GRN):c.1518C>T (p.Thr506=) rs768852944
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys)
NM_002087.4(GRN):c.1529G>A (p.Arg510His)
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp) rs1242287545
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly)
NM_002087.4(GRN):c.1564G>A (p.Gly522Arg)
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg)
NM_002087.4(GRN):c.1571G>T (p.Gly524Val)
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn)
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser)
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter)
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn)
NM_002087.4(GRN):c.160A>G (p.Ser54Gly) rs2143326730
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln)
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg)
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys)
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter)
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln)
NM_002087.4(GRN):c.1669C>T (p.His557Tyr) rs1415695846
NM_002087.4(GRN):c.1671C>G (p.His557Gln)
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys)
NM_002087.4(GRN):c.1691G>A (p.Arg564His) rs971443926
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp)
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala)
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) rs545762769
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys)
NM_002087.4(GRN):c.1730C>T (p.Ala577Val)
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu)
NM_002087.4(GRN):c.1734G>A (p.Pro578=)
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr)
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser)
NM_002087.4(GRN):c.1760del (p.Pro587fs)
NM_002087.4(GRN):c.176G>C (p.Gly59Ala)
NM_002087.4(GRN):c.1774C>G (p.Leu592Val)
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro)
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr)
NM_002087.4(GRN):c.18C>G (p.Ser6Arg)
NM_002087.4(GRN):c.190G>A (p.Asp64Asn)
NM_002087.4(GRN):c.19T>G (p.Trp7Gly)
NM_002087.4(GRN):c.202T>C (p.Ser68Pro)
NM_002087.4(GRN):c.206C>A (p.Ala69Asp)
NM_002087.4(GRN):c.212A>G (p.His71Arg)
NM_002087.4(GRN):c.215C>T (p.Ser72Phe)
NM_002087.4(GRN):c.258C>G (p.Phe86Leu)
NM_002087.4(GRN):c.263A>C (p.Glu88Ala)
NM_002087.4(GRN):c.264+3G>T
NM_002087.4(GRN):c.264+6C>T
NM_002087.4(GRN):c.26C>T (p.Ala9Val)
NM_002087.4(GRN):c.277G>A (p.Gly93Arg)
NM_002087.4(GRN):c.278G>A (p.Gly93Glu)
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) rs543578531
NM_002087.4(GRN):c.305G>A (p.Gly102Asp)
NM_002087.4(GRN):c.30A>C (p.Leu10Phe)
NM_002087.4(GRN):c.332C>T (p.Ser111Phe) rs1354832051
NM_002087.4(GRN):c.348A>C (p.Ser116=)
NM_002087.4(GRN):c.349+15T>A
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) rs758131649
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) rs758168578
NM_002087.4(GRN):c.379C>G (p.Pro127Ala)
NM_002087.4(GRN):c.393C>A (p.Phe131Leu)
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.401C>T (p.Pro134Leu)
NM_002087.4(GRN):c.406T>G (p.Phe136Val)
NM_002087.4(GRN):c.413C>T (p.Thr138Met)
NM_002087.4(GRN):c.427G>T (p.Val143Phe) rs1194653265
NM_002087.4(GRN):c.430G>A (p.Asp144Asn)
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer) rs2143332050
NM_002087.4(GRN):c.47C>T (p.Ala16Val)
NM_002087.4(GRN):c.487C>T (p.His163Tyr)
NM_002087.4(GRN):c.493T>C (p.Cys165Arg) rs2143333047
NM_002087.4(GRN):c.50G>C (p.Gly17Ala)
NM_002087.4(GRN):c.520G>A (p.Val174Ile)
NM_002087.4(GRN):c.545C>G (p.Thr182Arg)
NM_002087.4(GRN):c.554A>G (p.His185Arg)
NM_002087.4(GRN):c.559dup (p.Leu187fs) rs2048362758
NM_002087.4(GRN):c.562G>A (p.Ala188Thr)
NM_002087.4(GRN):c.581A>G (p.Gln194Arg)
NM_002087.4(GRN):c.591C>G (p.Asn197Lys)
NM_002087.4(GRN):c.614C>T (p.Ser205Leu)
NM_002087.4(GRN):c.632C>T (p.Ala211Val)
NM_002087.4(GRN):c.640C>T (p.Arg214Trp)
NM_002087.4(GRN):c.641G>A (p.Arg214Gln) rs1211576020
NM_002087.4(GRN):c.650A>T (p.Asp217Val)
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) rs63750683
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr)
NM_002087.4(GRN):c.673C>T (p.Pro225Ser)
NM_002087.4(GRN):c.680G>A (p.Gly227Glu)
NM_002087.4(GRN):c.685T>C (p.Tyr229His)
NM_002087.4(GRN):c.691T>C (p.Cys231Arg)
NM_002087.4(GRN):c.694T>C (p.Cys232Arg)
NM_002087.4(GRN):c.701T>G (p.Met234Arg) rs2143335468
NM_002087.4(GRN):c.708+2dup rs2143335568
NM_002087.4(GRN):c.713C>T (p.Thr238Ile)
NM_002087.4(GRN):c.716G>T (p.Cys239Phe)
NM_002087.4(GRN):c.724G>C (p.Asp242His)
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.4(GRN):c.751A>G (p.Thr251Ala)
NM_002087.4(GRN):c.752C>G (p.Thr251Ser)
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.4(GRN):c.781C>T (p.Leu261Phe)
NM_002087.4(GRN):c.784T>C (p.Ser262Pro)
NM_002087.4(GRN):c.796G>A (p.Ala266Thr) rs747362041
NM_002087.4(GRN):c.796G>C (p.Ala266Pro) rs747362041
NM_002087.4(GRN):c.797C>T (p.Ala266Val)
NM_002087.4(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.4(GRN):c.817A>G (p.Lys273Glu)
NM_002087.4(GRN):c.824C>T (p.Pro275Leu)
NM_002087.4(GRN):c.834A>T (p.Thr278=)
NM_002087.4(GRN):c.835G>T (p.Val279Leu)
NM_002087.4(GRN):c.857T>C (p.Met286Thr)
NM_002087.4(GRN):c.86C>T (p.Ala29Val)
NM_002087.4(GRN):c.878G>A (p.Gly293Asp)
NM_002087.4(GRN):c.893G>A (p.Arg298His)
NM_002087.4(GRN):c.8C>G (p.Thr3Ser) rs375939802
NM_002087.4(GRN):c.8C>T (p.Thr3Ile)
NM_002087.4(GRN):c.932A>T (p.Gln311Leu)
NM_002087.4(GRN):c.933+5C>G
NM_002087.4(GRN):c.933+5C>T
NM_002087.4(GRN):c.935C>T (p.Ala312Val)
NM_002087.4(GRN):c.980C>T (p.Thr327Met)
NM_002087.4(GRN):c.998G>T (p.Gly333Val)
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) rs63750742
NM_002397.5(MEF2C):c.-208del rs886060864
NM_003985.6(TNK1):c.393C>G (p.His131Gln) rs767381816
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*1633del rs886045043
NM_007375.4(TARDBP):c.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
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.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu) rs140152371

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