ClinVar Miner

List of variants in gene MAPT reported as uncertain significance

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Gene type:
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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00169
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.1891G>A (p.Ala631Thr) rs63750096 0.00067
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.889C>A (p.Arg297Ser) rs150983093 0.00038
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_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
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.1676A>G (p.Asn559Ser) rs150420625 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.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+2491C>T rs780582778 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_001377265.1(MAPT):c.62G>T (p.Gly21Val) rs781076528 0.00004
NM_005910.5(MAPT):c.-163G>T rs886053026 0.00004
NM_001377265.1(MAPT):c.1008G>A (p.Ala336=) rs200385096 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_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.14G>A (p.Arg5His) rs63750959 0.00002
NM_001377265.1(MAPT):c.162C>T (p.Asp54=) rs750428288 0.00002
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=) rs145897970 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.*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.1390G>A (p.Asp464Asn) rs768615863 0.00001
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.1516G>A (p.Val506Met) rs375359117 0.00001
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu) rs116231676 0.00001
NM_001377265.1(MAPT):c.1688T>C (p.Ile563Thr) rs1555711476 0.00001
NM_001377265.1(MAPT):c.1985C>T (p.Pro662Leu) rs1047467075 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.262G>A (p.Glu88Lys) rs373705830 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 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.100G>T (p.Asp34Tyr) rs193920968
NM_001377265.1(MAPT):c.1011G>C (p.Glu337Asp)
NM_001377265.1(MAPT):c.1059G>C (p.Glu353Asp) rs193920969
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)
NM_001377265.1(MAPT):c.110G>T (p.Gly37Val)
NM_001377265.1(MAPT):c.1156G>A (p.Val386Met) rs747178896
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)
NM_001377265.1(MAPT):c.1321A>C (p.Lys441Gln) rs1598276822
NM_001377265.1(MAPT):c.1351+5G>C
NM_001377265.1(MAPT):c.1355G>A (p.Arg452His)
NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn)
NM_001377265.1(MAPT):c.1366A>G (p.Lys456Glu)
NM_001377265.1(MAPT):c.1478G>A (p.Gly493Asp) rs1555710393
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met) rs759212591
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu)
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)
NM_001377265.1(MAPT):c.1750G>A (p.Gly584Arg) rs1568303669
NM_001377265.1(MAPT):c.1762G>A (p.Gly588Ser)
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)
NM_001377265.1(MAPT):c.1808G>A (p.Arg603His)
NM_001377265.1(MAPT):c.1811C>A (p.Thr604Asn) rs763356972
NM_001377265.1(MAPT):c.1814C>T (p.Pro605Leu)
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.1918G>A (p.Val640Met)
NM_001377265.1(MAPT):c.1972C>T (p.Leu658=) rs63750349
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu) rs2074495003
NM_001377265.1(MAPT):c.1998+33G>A
NM_001377265.1(MAPT):c.1999G>T (p.Val667Leu) rs1064797225
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)
NM_001377265.1(MAPT):c.2173G>T (p.Gly725Ter) rs2076012350
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) rs1598408073
NM_001377265.1(MAPT):c.220+2451C>G
NM_001377265.1(MAPT):c.221C>G (p.Ala74Gly) rs886053030
NM_001377265.1(MAPT):c.2286+6G>T rs2076343277
NM_001377265.1(MAPT):c.2302C>G (p.Leu768Val) rs1598425089
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser)
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp)
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val) rs144397565
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr)
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val) rs991713081
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val)
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn)
NM_001377265.1(MAPT):c.2495G>C (p.Gly832Ala)
NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp)
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)
NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly)
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe)
NM_001377265.1(MAPT):c.630_640del (p.Phe211fs) rs768990943
NM_001377265.1(MAPT):c.69G>C (p.Arg23Ser) rs193920967
NM_001377265.1(MAPT):c.761_762del (p.Glu254fs)
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)
NM_001377265.1(MAPT):c.841G>T (p.Ala281Ser) rs1321460540
NM_001377265.1(MAPT):c.848del (p.Gly283fs) rs773149360
NM_001377265.1(MAPT):c.898G>A (p.Asp300Asn)
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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