ClinVar Miner

List of variants in gene MAPT studied for Frontotemporal dementia

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Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) rs2258689 0.21570
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala) rs62063787 0.14671
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.220+18C>T rs75242405 0.14617
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.12790
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn) rs62063786 0.12772
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu) rs63750417 0.12767
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.12766
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.12765
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.12421
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=) rs63750222 0.11265
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05198
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03713
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01415
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg) rs76375268 0.00973
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.1732+2364C>T rs187760483 0.00178
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00175
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00169
NM_001377265.1(MAPT):c.117G>A (p.Thr39=) rs63750529 0.00154
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr) rs114635790 0.00147
NM_001377265.1(MAPT):c.912C>G (p.Pro304=) rs142327009 0.00112
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met) rs144611688 0.00080
NM_001377265.1(MAPT):c.120C>T (p.Asp40=) rs191362093 0.00067
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00067
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_001377265.1(MAPT):c.2406T>C (p.Asn802=) rs115381139 0.00026
NM_001377265.1(MAPT):c.643C>T (p.Pro215Ser) rs151115928 0.00019
NM_001377265.1(MAPT):c.1732+2367C>G rs267604921 0.00013
NM_001377265.1(MAPT):c.1137C>T (p.His379=) rs142283842 0.00009
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=) rs139748238 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.2263G>A (p.Val755Ile) rs63750869 0.00006
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.62G>T (p.Gly21Val) rs781076528 0.00004
NM_001377265.1(MAPT):c.1008G>A (p.Ala336=) rs200385096 0.00003
NM_001377265.1(MAPT):c.1356C>A (p.Arg452=) rs776028517 0.00003
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=) rs750910229 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.14G>A (p.Arg5His) rs63750959 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.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys) rs63750191 0.00002
NM_001377265.1(MAPT):c.969A>C (p.Thr323=) rs781607136 0.00002
NM_001377265.1(MAPT):c.1023C>G (p.Pro341=) rs1382449748 0.00001
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys) rs986393575 0.00001
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu) rs116231676 0.00001
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=) rs201057449 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.2313C>T (p.Arg771=) rs373462041 0.00001
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 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_001377265.1(MAPT):c.973G>A (p.Ala325Thr) rs770014302 0.00001
NM_001377265.1(MAPT):c.-18+124C>G
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)
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.1407+18C>T
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met) rs759212591
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=)
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu)
NM_001377265.1(MAPT):c.1703C>T (p.Pro568Leu) rs1273925499
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=)
NM_001377265.1(MAPT):c.1732+8_1732+10del
NM_001377265.1(MAPT):c.1733-12C>T
NM_001377265.1(MAPT):c.1733-14T>C
NM_001377265.1(MAPT):c.1733-3del rs2074473044
NM_001377265.1(MAPT):c.1749_1750del (p.Asp585fs)
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=)
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)
NM_001377265.1(MAPT):c.177G>A (p.Pro59=)
NM_001377265.1(MAPT):c.177G>C (p.Pro59=)
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.1854G>A (p.Val618=)
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=)
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)
NM_001377265.1(MAPT):c.18G>A (p.Gln6=)
NM_001377265.1(MAPT):c.1918G>A (p.Val640Met)
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=)
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=) rs373081497
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu) rs2074495003
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) rs63750376
NM_001377265.1(MAPT):c.1998+15C>T
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=)
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) rs63751438
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) rs63751165
NM_001377265.1(MAPT):c.2091+11T>C rs63751394
NM_001377265.1(MAPT):c.2091+13A>G rs63750308
NM_001377265.1(MAPT):c.2091+14C>T rs63750972
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+1G>A rs1568327531
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
NM_001377265.1(MAPT):c.2126A>T (p.Lys709Met) rs63750092
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
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.2185G>A (p.Val729Met) rs63750570
NM_001377265.1(MAPT):c.220+2451C>G
NM_001377265.1(MAPT):c.220+2480G>A
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) rs63750711
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg) rs1568339821
NM_001377265.1(MAPT):c.2262C>T (p.His754=)
NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr) rs1598408336
NM_001377265.1(MAPT):c.2286+6G>T rs2076343277
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=)
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser)
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp)
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr)
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=)
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val)
NM_001377265.1(MAPT):c.2418C>T (p.Thr806=)
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn)
NM_001377265.1(MAPT):c.2451C>T (p.Leu817=)
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.273T>C (p.Gly91=)
NM_001377265.1(MAPT):c.36A>G (p.Glu12=)
NM_001377265.1(MAPT):c.42C>T (p.His14=)
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.756C>T (p.Asp252=) rs1358418932
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)
NM_001377265.1(MAPT):c.841G>T (p.Ala281Ser) rs1321460540

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