ClinVar Miner

List of variants reported as likely benign for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 329
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HGVS dbSNP gnomAD frequency
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr) rs114635790 0.00217
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile) rs116733906 0.00116
NM_002087.4(GRN):c.1126G>A (p.Asp376Asn) rs143030899 0.00082
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met) rs144611688 0.00080
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_001377265.1(MAPT):c.120C>T (p.Asp40=) rs191362093 0.00067
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) rs143560849 0.00058
NM_002087.4(GRN):c.1515C>T (p.Ala505=) rs147495221 0.00052
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_002087.4(GRN):c.513C>T (p.Cys171=) rs147974849 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_002087.4(GRN):c.981G>A (p.Thr327=) rs145655086 0.00041
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_002087.4(GRN):c.276C>T (p.Cys92=) rs146792371 0.00024
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_002087.4(GRN):c.360C>T (p.Ser120=) rs375183423 0.00021
NM_001377265.1(MAPT):c.1998+15C>T rs749726538 0.00019
NM_001377265.1(MAPT):c.273T>C (p.Gly91=) rs141556635 0.00019
NM_002087.4(GRN):c.705C>A (p.Pro235=) rs148507354 0.00019
NM_001377265.1(MAPT):c.1854G>A (p.Val618=) rs114900761 0.00018
NM_002087.4(GRN):c.349+12G>T rs367640963 0.00018
NM_000021.4(PSEN1):c.711T>C (p.Phe237=) rs750352441 0.00016
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) rs200373970 0.00015
NM_002087.4(GRN):c.1539C>T (p.His513=) rs772977073 0.00014
NM_002087.4(GRN):c.279G>A (p.Gly93=) rs63751088 0.00014
NM_001377265.1(MAPT):c.2262C>T (p.His754=) rs747658161 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=) rs142776675 0.00011
NM_002087.4(GRN):c.507C>G (p.Ala169=) rs113426443 0.00011
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_002087.4(GRN):c.836-8C>T rs376226985 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_001377265.1(MAPT):c.1137C>T (p.His379=) rs142283842 0.00009
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=) rs139748238 0.00009
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_002087.4(GRN):c.1449G>A (p.Pro483=) rs150294858 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.429C>T (p.Val143=) rs369649646 0.00009
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344 0.00008
NM_000021.4(PSEN1):c.480+17G>A rs375376095 0.00008
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.615G>A (p.Ser205=) rs372963871 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=) rs148501218 0.00007
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) rs768223928 0.00007
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) rs199632597 0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) rs377053325 0.00006
NM_001377265.1(MAPT):c.220+2480G>A rs368318765 0.00006
NM_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 0.00006
NM_001377265.1(MAPT):c.2451C>T (p.Leu817=) rs200637464 0.00005
NM_002087.4(GRN):c.102C>T (p.Pro34=) rs63751074 0.00005
NM_002087.4(GRN):c.501C>T (p.His167=) rs372194047 0.00005
NM_002087.4(GRN):c.555C>T (p.His185=) rs146250263 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) rs753457678 0.00004
NM_001377265.1(MAPT):c.1453C>T (p.Leu485Phe) rs199759929 0.00004
NM_001377265.1(MAPT):c.1638G>A (p.Pro546=) rs201046056 0.00004
NM_001377265.1(MAPT):c.1733-12C>T rs373115116 0.00004
NM_001377265.1(MAPT):c.177G>A (p.Pro59=) rs370131551 0.00004
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=) rs115142761 0.00004
NM_001377265.1(MAPT):c.220+2450A>G rs773274633 0.00004
NM_001377265.1(MAPT):c.2319C>T (p.Asn773=) rs746312281 0.00004
NM_001377265.1(MAPT):c.42C>T (p.His14=) rs759306195 0.00004
NM_002087.4(GRN):c.1695C>T (p.Cys565=) rs63751248 0.00004
NM_002087.4(GRN):c.402G>A (p.Pro134=) rs201932427 0.00004
NM_002087.4(GRN):c.552C>T (p.Thr184=) rs141697391 0.00004
NM_002087.4(GRN):c.690C>T (p.Gly230=) rs956842924 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_001377265.1(MAPT):c.1377C>T (p.Asp459=) rs371173110 0.00003
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=) rs750910229 0.00003
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=) rs750316359 0.00003
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=) rs779043983 0.00003
NM_002087.4(GRN):c.1485C>T (p.Cys495=) rs63750576 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 0.00003
NM_002087.4(GRN):c.933+11G>A rs373518235 0.00003
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=) rs201453174 0.00002
NM_000021.4(PSEN1):c.501T>C (p.Ile167=) rs199637432 0.00002
NM_000021.4(PSEN1):c.813G>T (p.Leu271=) rs757698754 0.00002
NM_001377265.1(MAPT):c.1632C>A (p.Ala544=) rs757701420 0.00002
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=) rs778876874 0.00002
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=) rs145897970 0.00002
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=) rs771974951 0.00002
NM_001377265.1(MAPT):c.2418C>T (p.Thr806=) rs749816245 0.00002
NM_001377265.1(MAPT):c.36A>G (p.Glu12=) rs375852870 0.00002
NM_001377265.1(MAPT):c.969A>C (p.Thr323=) rs781607136 0.00002
NM_002087.4(GRN):c.327G>A (p.Gly109=) rs753361816 0.00002
NM_002087.4(GRN):c.630C>T (p.Asp210=) rs768056183 0.00002
NM_002087.4(GRN):c.723C>T (p.Ser241=) rs200408271 0.00002
NM_002087.4(GRN):c.969C>T (p.Pro323=) rs749575144 0.00002
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln) rs201216284 0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) rs201113902 0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) rs1382127121 0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) rs752833058 0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) rs758814165 0.00001
NM_000021.4(PSEN1):c.956-20A>C rs763638380 0.00001
NM_001377265.1(MAPT):c.1023C>G (p.Pro341=) rs1382449748 0.00001
NM_001377265.1(MAPT):c.1356C>A (p.Arg452=) rs776028517 0.00001
NM_001377265.1(MAPT):c.1407+18C>T rs957054703 0.00001
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys) rs986393575 0.00001
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=) rs201057449 0.00001
NM_001377265.1(MAPT):c.18G>A (p.Gln6=) rs769584478 0.00001
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=) rs753776994 0.00001
NM_001377265.1(MAPT):c.2173+9G>C rs979650971 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=) rs373462041 0.00001
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=) rs377720312 0.00001
NM_001377265.1(MAPT):c.261C>T (p.Asp87=) rs768654750 0.00001
NM_001377265.1(MAPT):c.973G>A (p.Ala325Thr) rs770014302 0.00001
NM_002087.4(GRN):c.1125C>T (p.Ser375=) rs569994549 0.00001
NM_002087.4(GRN):c.1146G>A (p.Thr382=) rs200308105 0.00001
NM_002087.4(GRN):c.1180-16C>A rs1167667946 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1221C>A (p.Gly407=) rs201630084 0.00001
NM_002087.4(GRN):c.1269G>A (p.Val423=) rs1472989013 0.00001
NM_002087.4(GRN):c.1425C>T (p.Cys475=) rs63751104 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 0.00001
NM_002087.4(GRN):c.498G>A (p.Pro166=) rs141873754 0.00001
NM_002087.4(GRN):c.54G>A (p.Thr18=) rs753160641 0.00001
NM_002087.4(GRN):c.69T>C (p.Gly23=) rs756420341 0.00001
NM_002087.4(GRN):c.708C>T (p.Asn236=) rs63750744 0.00001
NM_002087.4(GRN):c.709-8C>T rs373210564 0.00001
NM_002087.4(GRN):c.804G>A (p.Thr268=) rs63750229 0.00001
NM_002087.4(GRN):c.891C>T (p.Cys297=) rs1341898712 0.00001
NM_002087.4(GRN):c.933+7del rs762910178 0.00001
NM_002087.4(GRN):c.990G>A (p.Thr330=) rs375066213 0.00001
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser) rs376433615
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1130-13del
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
NM_000021.4(PSEN1):c.177C>T (p.Ser59=) rs201998552
NM_000021.4(PSEN1):c.213G>A (p.Glu71=) rs762907738
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.435C>T (p.Val145=) rs202090424
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.549-19C>A rs201724748
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.868+16_868+21del
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.88-7C>T rs1594997672
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
NM_001377265.1(MAPT):c.133+7G>A
NM_001377265.1(MAPT):c.134-20G>C
NM_001377265.1(MAPT):c.1407+10C>T
NM_001377265.1(MAPT):c.1407+11G>A
NM_001377265.1(MAPT):c.153C>A (p.Pro51=)
NM_001377265.1(MAPT):c.1606-18A>G
NM_001377265.1(MAPT):c.1606-19T>C
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=) rs759212591
NM_001377265.1(MAPT):c.1677C>T (p.Asn559=)
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=) rs1052551
NM_001377265.1(MAPT):c.1732+8_1732+10del rs745595533
NM_001377265.1(MAPT):c.1733-14T>C rs2145830502
NM_001377265.1(MAPT):c.1733-5C>T
NM_001377265.1(MAPT):c.1749A>C (p.Ser583=)
NM_001377265.1(MAPT):c.1752G>A (p.Gly584=)
NM_001377265.1(MAPT):c.177G>C (p.Pro59=) rs370131551
NM_001377265.1(MAPT):c.1794C>T (p.Pro598=)
NM_001377265.1(MAPT):c.1815G>A (p.Pro605=)
NM_001377265.1(MAPT):c.1890C>T (p.Ser630=)
NM_001377265.1(MAPT):c.1992C>T (p.Gly664=)
NM_001377265.1(MAPT):c.1995G>C (p.Gly665=)
NM_001377265.1(MAPT):c.1998+19G>A
NM_001377265.1(MAPT):c.1998+20C>T
NM_001377265.1(MAPT):c.1999-6C>A
NM_001377265.1(MAPT):c.2091+17G>A
NM_001377265.1(MAPT):c.2092-18C>A
NM_001377265.1(MAPT):c.216G>A (p.Ala72=)
NM_001377265.1(MAPT):c.220+2477C>A
NM_001377265.1(MAPT):c.2205G>A (p.Lys735=)
NM_001377265.1(MAPT):c.2232G>C (p.Ser744=)
NM_001377265.1(MAPT):c.2268T>C (p.Pro756=)
NM_001377265.1(MAPT):c.2287-12C>T
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=) rs373462041
NM_001377265.1(MAPT):c.2328C>T (p.Ala776=)
NM_001377265.1(MAPT):c.2436A>C (p.Val812=)
NM_001377265.1(MAPT):c.2445C>G (p.Pro815=)
NM_001377265.1(MAPT):c.39T>C (p.Asp13=)
NM_001377265.1(MAPT):c.58T>C (p.Leu20=)
NM_001377265.1(MAPT):c.756C>T (p.Asp252=) rs1358418932
NM_002087.4(GRN):c.1020C>T (p.His340=)
NM_002087.4(GRN):c.1041G>A (p.Lys347=)
NM_002087.4(GRN):c.1060C>T (p.Leu354=)
NM_002087.4(GRN):c.1071A>T (p.Pro357=) rs765677842
NM_002087.4(GRN):c.108A>T (p.Gly36=)
NM_002087.4(GRN):c.1092C>T (p.Val364=)
NM_002087.4(GRN):c.1149T>A (p.Ser383=)
NM_002087.4(GRN):c.1152G>A (p.Gly384=)
NM_002087.4(GRN):c.1179+15del
NM_002087.4(GRN):c.1180-12C>T
NM_002087.4(GRN):c.1180-4C>A
NM_002087.4(GRN):c.1180-7C>G rs1288562767
NM_002087.4(GRN):c.1194G>A (p.Ser398=)
NM_002087.4(GRN):c.1227G>T (p.Thr409=)
NM_002087.4(GRN):c.1266C>T (p.Ile422=)
NM_002087.4(GRN):c.129T>C (p.Arg43=) rs2143325907
NM_002087.4(GRN):c.1326C>T (p.Ile442=) rs748758630
NM_002087.4(GRN):c.1344C>G (p.Thr448=)
NM_002087.4(GRN):c.1344C>T (p.Thr448=)
NM_002087.4(GRN):c.1374G>A (p.Pro458=)
NM_002087.4(GRN):c.1374G>C (p.Pro458=)
NM_002087.4(GRN):c.138+13C>G
NM_002087.4(GRN):c.139-10_139-7del
NM_002087.4(GRN):c.139-12C>G
NM_002087.4(GRN):c.139-13C>T
NM_002087.4(GRN):c.139-18T>C
NM_002087.4(GRN):c.1395C>T (p.Ala465=) rs2143346048
NM_002087.4(GRN):c.1413+20C>T
NM_002087.4(GRN):c.1414-6C>T
NM_002087.4(GRN):c.1414-9C>T
NM_002087.4(GRN):c.1434C>T (p.Arg478=)
NM_002087.4(GRN):c.1467C>T (p.Asn489=)
NM_002087.4(GRN):c.1482C>T (p.Ser494=)
NM_002087.4(GRN):c.1497G>A (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>C (p.Val499=) rs375682522
NM_002087.4(GRN):c.1497G>T (p.Val499=)
NM_002087.4(GRN):c.1527C>T (p.Ala509=)
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1554C>T (p.Asp518=)
NM_002087.4(GRN):c.1560G>A (p.Glu520=)
NM_002087.4(GRN):c.1575C>T (p.His525=)
NM_002087.4(GRN):c.1578C>T (p.Phe526=) rs2143348471
NM_002087.4(GRN):c.1644+10A>T
NM_002087.4(GRN):c.1644+13C>A rs1219352976
NM_002087.4(GRN):c.1644+20C>T
NM_002087.4(GRN):c.1645-15C>G rs1292365225
NM_002087.4(GRN):c.1645-17C>T
NM_002087.4(GRN):c.1645-19C>T
NM_002087.4(GRN):c.1645-20G>A rs368901283
NM_002087.4(GRN):c.1645-20G>T
NM_002087.4(GRN):c.1665G>T (p.Arg555=)
NM_002087.4(GRN):c.1674C>T (p.Cys558=)
NM_002087.4(GRN):c.1683T>C (p.Ala561=)
NM_002087.4(GRN):c.1686C>T (p.Gly562=)
NM_002087.4(GRN):c.168T>C (p.His56=)
NM_002087.4(GRN):c.1698A>C (p.Ala566=)
NM_002087.4(GRN):c.1707T>C (p.Gly569=)
NM_002087.4(GRN):c.1719G>A (p.Leu573=) rs781110932
NM_002087.4(GRN):c.1731C>T (p.Ala577=)
NM_002087.4(GRN):c.1743C>T (p.Asp581=) rs1442769378
NM_002087.4(GRN):c.1752G>A (p.Leu584=)
NM_002087.4(GRN):c.1764C>T (p.Ala588=)
NM_002087.4(GRN):c.1770A>G (p.Arg590=)
NM_002087.4(GRN):c.186G>A (p.Gln62=)
NM_002087.4(GRN):c.18C>T (p.Ser6=)
NM_002087.4(GRN):c.198C>T (p.His66=)
NM_002087.4(GRN):c.207C>T (p.Ala69=)
NM_002087.4(GRN):c.240T>C (p.Thr80=) rs748557876
NM_002087.4(GRN):c.243C>T (p.Ser81=)
NM_002087.4(GRN):c.24G>A (p.Val8=)
NM_002087.4(GRN):c.258C>T (p.Phe86=)
NM_002087.4(GRN):c.264+13T>C
NM_002087.4(GRN):c.264+7G>C
NM_002087.4(GRN):c.265-13C>G
NM_002087.4(GRN):c.265-7T>C
NM_002087.4(GRN):c.285C>T (p.Gly95=)
NM_002087.4(GRN):c.291C>T (p.His97=)
NM_002087.4(GRN):c.301C>A (p.Arg101=)
NM_002087.4(GRN):c.321A>C (p.Ala107=) rs1459426505
NM_002087.4(GRN):c.324C>T (p.Asp108=)
NM_002087.4(GRN):c.339C>T (p.Phe113=)
NM_002087.4(GRN):c.349+11G>A
NM_002087.4(GRN):c.349+12G>C
NM_002087.4(GRN):c.349+16G>C rs901525268
NM_002087.4(GRN):c.349+18del
NM_002087.4(GRN):c.349+19T>C
NM_002087.4(GRN):c.350-13A>G
NM_002087.4(GRN):c.350-9T>C
NM_002087.4(GRN):c.351T>G (p.Gly117=) rs2143331256
NM_002087.4(GRN):c.378C>T (p.Cys126=)
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.414G>A (p.Thr138=) rs543344476
NM_002087.4(GRN):c.423T>G (p.Val141=)
NM_002087.4(GRN):c.462+13G>A
NM_002087.4(GRN):c.462+16A>G
NM_002087.4(GRN):c.462+20G>A
NM_002087.4(GRN):c.474T>C (p.Cys158=)
NM_002087.4(GRN):c.573C>T (p.Leu191=)
NM_002087.4(GRN):c.582G>A (p.Gln194=)
NM_002087.4(GRN):c.599-10C>T
NM_002087.4(GRN):c.599-11T>A
NM_002087.4(GRN):c.599-18C>T
NM_002087.4(GRN):c.599-8T>C
NM_002087.4(GRN):c.636G>A (p.Arg212=)
NM_002087.4(GRN):c.657T>A (p.Ser219=)
NM_002087.4(GRN):c.657T>C (p.Ser219=)
NM_002087.4(GRN):c.660C>G (p.Thr220=) rs1416699369
NM_002087.4(GRN):c.708+15G>A rs765540363
NM_002087.4(GRN):c.708+20C>T
NM_002087.4(GRN):c.741C>T (p.Cys247=)
NM_002087.4(GRN):c.744C>G (p.Pro248=)
NM_002087.4(GRN):c.753T>C (p.Thr251=)
NM_002087.4(GRN):c.795C>T (p.Asn265=)
NM_002087.4(GRN):c.828G>A (p.Ala276=)
NM_002087.4(GRN):c.836-14T>G
NM_002087.4(GRN):c.836-19CT[2]
NM_002087.4(GRN):c.836-5C>G
NM_002087.4(GRN):c.836-7C>T rs1598364646
NM_002087.4(GRN):c.873A>G (p.Pro291=)
NM_002087.4(GRN):c.873A>T (p.Pro291=) rs2143339424
NM_002087.4(GRN):c.87C>A (p.Ala29=)
NM_002087.4(GRN):c.882T>C (p.Tyr294=) rs794729670
NM_002087.4(GRN):c.895C>T (p.Leu299=)
NM_002087.4(GRN):c.933+10G>A
NM_002087.4(GRN):c.933+16G>A
NM_002087.4(GRN):c.933+7A>T rs1598364800
NM_002087.4(GRN):c.934-8del rs1567887447
NM_002087.4(GRN):c.934-9C>T
NM_002087.4(GRN):c.954C>T (p.His318=)
NM_002087.4(GRN):c.96G>C (p.Leu32=)

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