ClinVar Miner

List of variants in gene MAPT reported as uncertain significance for MAPT-Related Spectrum Disorders

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.*1960G>A rs372196788 0.00090
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 0.00013
NM_001377265.1(MAPT):c.*1910G>C rs886053041 0.00011
NM_001377265.1(MAPT):c.*3765G>A rs754252154 0.00011
NM_005910.5(MAPT):c.-314G>A rs886053022 0.00010
NM_001377265.1(MAPT):c.*2969G>A rs886053050 0.00008
NM_001377265.1(MAPT):c.*1889T>G rs886053039 0.00007
NM_001377265.1(MAPT):c.*2931G>C rs536017906 0.00007
NM_001377265.1(MAPT):c.*2857G>A rs886053049 0.00006
NM_001377265.1(MAPT):c.-26G>T rs886053029 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.2319C>T (p.Asn773=) rs746312281 0.00004
NM_005910.5(MAPT):c.-163G>T rs886053026 0.00004
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=) rs148501218 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.162C>T (p.Asp54=) rs750428288 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.*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.2173+9G>C rs979650971 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 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.*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
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.*2636G>A rs2076822793
NM_001377265.1(MAPT):c.*2681C>G rs886053047
NM_001377265.1(MAPT):c.*3004T>C rs886053051
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.*844C>T rs886053035
NM_001377265.1(MAPT):c.-141G>A rs886053027
NM_001377265.1(MAPT):c.1972C>T (p.Leu658=) rs63750349
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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