List of variants in gene MAPT reported as uncertain significance

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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