ClinVar Miner

List of variants in gene MAPT reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.*3858A>G rs7521 0.56622
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.14782
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.*26T>C rs9468 0.14547
NM_005910.5(MAPT):c.-285A>G rs11575895 0.14499
NM_001377265.1(MAPT):c.-133C>A rs62056779 0.14475
NM_001377265.1(MAPT):c.-13A>G rs17650901 0.14470
NM_001377265.1(MAPT):c.*1328A>C rs17574040 0.14462
NM_001377265.1(MAPT):c.*2288T>C rs75010486 0.14444
NM_001377265.1(MAPT):c.*2289G>A rs16940806 0.14437
NM_001377265.1(MAPT):c.*2390_*2391insT rs35134656 0.14422
NM_001377265.1(MAPT):c.*1909_*1910del rs71760839 0.14410
NM_001377265.1(MAPT):c.*1396T>C rs16940799 0.14363
NM_001377265.1(MAPT):c.*334A>G rs8712 0.12761
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_001377265.1(MAPT):c.*76G>A rs73317038 0.03228
NM_001377265.1(MAPT):c.*464G>A rs17574005 0.01741
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01528
NM_001377265.1(MAPT):c.*732C>A rs189413478 0.00262
NM_001377265.1(MAPT):c.*3951G>A rs368485438 0.00192
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001377265.1(MAPT):c.*1960G>A rs372196788 0.00090
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_001377265.1(MAPT):c.*852C>T rs548424713 0.00069
NM_001377265.1(MAPT):c.*785A>G rs563116941 0.00048
NM_001377265.1(MAPT):c.*3319T>C rs763646469 0.00045
NM_001377265.1(MAPT):c.*242A>T rs3209489 0.00024
NM_001377265.1(MAPT):c.*670G>A rs753718859 0.00020
NM_001377265.1(MAPT):c.*2251C>T rs886053043 0.00014
NM_001377265.1(MAPT):c.*1910G>C rs886053041 0.00011
NM_001377265.1(MAPT):c.*3765G>A rs754252154 0.00011
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_001377265.1(MAPT):c.*1889T>G rs886053039 0.00009
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_001377265.1(MAPT):c.*2969G>A rs886053050 0.00008
NM_001377265.1(MAPT):c.*49G>A rs367621316 0.00008
NM_001377265.1(MAPT):c.*2931G>C rs536017906 0.00007
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=) rs148501218 0.00007
NM_005910.5(MAPT):c.-314G>A rs886053022 0.00007
NM_001377265.1(MAPT):c.-26G>T rs886053029 0.00006
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.*1108G>A rs886053036 0.00005
NM_001377265.1(MAPT):c.*2737G>C rs886053048 0.00005
NM_001377265.1(MAPT):c.*4004C>T rs751624614 0.00005
NM_001377265.1(MAPT):c.*1145C>T rs1282124024 0.00004
NM_001377265.1(MAPT):c.*1864T>C rs1045372663 0.00004
NM_001377265.1(MAPT):c.*524G>A rs886053034 0.00004
NM_001377265.1(MAPT):c.1638G>A (p.Pro546=) rs201046056 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_005910.5(MAPT):c.-163G>T rs886053026 0.00004
NM_001377265.1(MAPT):c.2457G>A (p.Thr819=) rs369954009 0.00003
NM_001377265.1(MAPT):c.*3589G>A rs756371861 0.00002
NM_001377265.1(MAPT):c.*3817G>A rs886053055 0.00002
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001377265.1(MAPT):c.162C>T (p.Asp54=) rs750428288 0.00002
NM_001377265.1(MAPT):c.1632C>A (p.Ala544=) rs757701420 0.00002
NM_001377265.1(MAPT):c.220+2503C>T rs138293088 0.00002
NM_001377265.1(MAPT):c.*1248T>G rs1359343408 0.00001
NM_001377265.1(MAPT):c.*1603C>A rs62062298 0.00001
NM_001377265.1(MAPT):c.*2857G>A rs886053049 0.00001
NM_001377265.1(MAPT):c.*4071G>A rs1267052993 0.00001
NM_001377265.1(MAPT):c.*734C>G rs1190546785 0.00001
NM_001377265.1(MAPT):c.*857G>A rs1043283500 0.00001
NM_001377265.1(MAPT):c.*884G>A rs1255580984 0.00001
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.1670A>G (p.Gln557Arg) rs568067396 0.00001
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=) rs201057449 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.2364G>A (p.Ser788=) rs377720312 0.00001
NM_005910.5(MAPT):c.-241C>T rs1021756382 0.00001
NM_005910.5(MAPT):c.-310G>T rs886053023 0.00001
NM_001377265.1(MAPT):c.*1089G>A rs2076756072
NM_001377265.1(MAPT):c.*1108G>T rs886053036
NM_001377265.1(MAPT):c.*1206AC[1] rs66561280
NM_001377265.1(MAPT):c.*1464C>T rs886053037
NM_001377265.1(MAPT):c.*1671A>C rs2076783375
NM_001377265.1(MAPT):c.*1737del rs886053038
NM_001377265.1(MAPT):c.*1892A>C rs886053040
NM_001377265.1(MAPT):c.*1910G>T rs886053041
NM_001377265.1(MAPT):c.*1933_*1936del rs886053042
NM_001377265.1(MAPT):c.*2122G>A rs534237172
NM_001377265.1(MAPT):c.*2186C>A rs2076806697
NM_001377265.1(MAPT):c.*2252G>A rs1408084649
NM_001377265.1(MAPT):c.*2288_*2289inv rs796667312
NM_001377265.1(MAPT):c.*241dup rs55661512
NM_001377265.1(MAPT):c.*2493G>A rs886053044
NM_001377265.1(MAPT):c.*250dup rs1555726075
NM_001377265.1(MAPT):c.*2527C>A rs916922460
NM_001377265.1(MAPT):c.*2531AGGA[1] rs886053045
NM_001377265.1(MAPT):c.*2616_*2618dup rs375986662
NM_001377265.1(MAPT):c.*2636G>A rs2076822793
NM_001377265.1(MAPT):c.*2681C>G rs886053047
NM_001377265.1(MAPT):c.*2743del rs5820606
NM_001377265.1(MAPT):c.*2876_*2878del rs35654420
NM_001377265.1(MAPT):c.*3004T>C rs886053051
NM_001377265.1(MAPT):c.*3040CTT[1] rs67656733
NM_001377265.1(MAPT):c.*317dup rs55658521
NM_001377265.1(MAPT):c.*3216C>A rs2076853735
NM_001377265.1(MAPT):c.*3358TGT[1] rs886053053
NM_001377265.1(MAPT):c.*3371G>A rs933842073
NM_001377265.1(MAPT):c.*3381G>C rs886053054
NM_001377265.1(MAPT):c.*3571C>A rs2076875188
NM_001377265.1(MAPT):c.*3872_*3874dup rs886053056
NM_001377265.1(MAPT):c.*412G>C rs886053033
NM_001377265.1(MAPT):c.*453T>G rs570856603
NM_001377265.1(MAPT):c.*537G>A rs2076731366
NM_001377265.1(MAPT):c.*553G>A rs1053380107
NM_001377265.1(MAPT):c.*65AAT[1] rs564954259
NM_001377265.1(MAPT):c.*844C>T rs886053035
NM_001377265.1(MAPT):c.*907CT[3] rs56289286
NM_001377265.1(MAPT):c.-141G>A rs886053027
NM_001377265.1(MAPT):c.-42del rs144722105
NM_001377265.1(MAPT):c.1972C>T (p.Leu658=) rs63750349
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=) rs373081497
NM_001377265.1(MAPT):c.221C>G (p.Ala74Gly) rs886053030
NM_005910.5(MAPT):c.-177G>C rs886053025
NM_005910.5(MAPT):c.-235C>G rs550530601
NM_005910.5(MAPT):c.-245C>T rs886053024
NM_005910.5(MAPT):c.-315C>A rs886053021

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