ClinVar Miner

List of variants in gene MAPT studied for not provided

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Gene type:
ClinVar version:
Total variants: 200
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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.-13A>G rs17650901 0.14470
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.12790
NM_001377265.1(MAPT):c.*26T>C rs9468 0.12782
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.*76G>A rs73317038 0.02995
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.912C>G (p.Pro304=) rs142327009 0.00112
NM_001377265.1(MAPT):c.762G>A (p.Glu254=) rs185284364 0.00083
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.777C>T (p.Ala259=) rs370558032 0.00027
NM_001377265.1(MAPT):c.774C>T (p.His258=) rs761089103 0.00026
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_001377265.1(MAPT):c.1567C>T (p.Arg523Ter) rs200099007 0.00011
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=) rs142776675 0.00011
NM_001377265.1(MAPT):c.678C>T (p.Ser226=) rs537438059 0.00011
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_001377265.1(MAPT):c.1676A>G (p.Asn559Ser) rs150420625 0.00007
NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu) rs199644237 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.601C>T (p.Pro201Ser) rs776821664 0.00004
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_001377265.1(MAPT):c.1238G>A (p.Arg413Gln) rs1261221296 0.00003
NM_001377265.1(MAPT):c.1332C>T (p.Ser444=) rs63750862 0.00003
NM_001377265.1(MAPT):c.1377C>T (p.Asp459=) rs371173110 0.00003
NM_001377265.1(MAPT):c.2091+25C>T rs63750117 0.00003
NM_001377265.1(MAPT):c.220+2475G>A rs63751135 0.00003
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=) rs145897970 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.769C>T (p.Arg257Cys) rs763093275 0.00002
NM_001377265.1(MAPT):c.969A>C (p.Thr323=) rs781607136 0.00002
NM_001377265.1(MAPT):c.1164G>T (p.Lys388Asn) rs759294645 0.00001
NM_001377265.1(MAPT):c.1327G>A (p.Val443Ile) rs774040384 0.00001
NM_001377265.1(MAPT):c.1347C>G (p.Leu449=) rs907474340 0.00001
NM_001377265.1(MAPT):c.1390G>A (p.Asp464Asn) rs768615863 0.00001
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys) rs986393575 0.00001
NM_001377265.1(MAPT):c.1516G>A (p.Val506Met) rs375359117 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu) rs63750425 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.2456C>T (p.Thr819Met) rs63750991 0.00001
NM_001377265.1(MAPT):c.261C>T (p.Asp87=) rs768654750 0.00001
NM_001377265.1(MAPT):c.690G>A (p.Gly230=) rs551008482 0.00001
NM_001377265.1(MAPT):c.963C>G (p.Pro321=) rs550945297 0.00001
NM_001377265.1(MAPT):c.*241dup rs55661512
NM_001377265.1(MAPT):c.-17-171G>T
NM_001377265.1(MAPT):c.-17-215C>T
NM_001377265.1(MAPT):c.-17-277A>G
NM_001377265.1(MAPT):c.-17-322C>T
NM_001377265.1(MAPT):c.1011G>C (p.Glu337Asp)
NM_001377265.1(MAPT):c.110G>T (p.Gly37Val)
NM_001377265.1(MAPT):c.1115C>G (p.Ala372Gly) rs377402921
NM_001377265.1(MAPT):c.1146C>A (p.Ile382=) rs1598275540
NM_001377265.1(MAPT):c.1155C>T (p.Asn385=) rs745350248
NM_001377265.1(MAPT):c.1156G>A (p.Val386Met) rs747178896
NM_001377265.1(MAPT):c.1287C>T (p.Pro429=) rs772857557
NM_001377265.1(MAPT):c.1321A>C (p.Lys441Gln) rs1598276822
NM_001377265.1(MAPT):c.1326C>T (p.Pro442=)
NM_001377265.1(MAPT):c.133+284C>T
NM_001377265.1(MAPT):c.134-284_134-281del
NM_001377265.1(MAPT):c.134-287del
NM_001377265.1(MAPT):c.134-290_134-289insACCA
NM_001377265.1(MAPT):c.134-92T>C
NM_001377265.1(MAPT):c.1351+21C>T
NM_001377265.1(MAPT):c.1351+249A>C
NM_001377265.1(MAPT):c.1351+315del
NM_001377265.1(MAPT):c.1351+48_1351+56del
NM_001377265.1(MAPT):c.1351+52C>T
NM_001377265.1(MAPT):c.1352-103C>T
NM_001377265.1(MAPT):c.1352-198G>A
NM_001377265.1(MAPT):c.1352-72T>C
NM_001377265.1(MAPT):c.1407+297_1407+298insCCCC
NM_001377265.1(MAPT):c.1407+298_1407+299insGGACAGTAAATGAAGGTGTGTTTGAAAACCAAC
NM_001377265.1(MAPT):c.1408-198G>A
NM_001377265.1(MAPT):c.1408-249C>T
NM_001377265.1(MAPT):c.1478G>A (p.Gly493Asp) rs1555710393
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu) rs63750959
NM_001377265.1(MAPT):c.1605+105T>C
NM_001377265.1(MAPT):c.1605+241G>A
NM_001377265.1(MAPT):c.1605+67A>G
NM_001377265.1(MAPT):c.1606-283G>A
NM_001377265.1(MAPT):c.1606-334A>G
NM_001377265.1(MAPT):c.1732+195C>A
NM_001377265.1(MAPT):c.1732+210dup
NM_001377265.1(MAPT):c.1732+2137C>G
NM_001377265.1(MAPT):c.1732+228C>G
NM_001377265.1(MAPT):c.1732+2338C>T rs543103148
NM_001377265.1(MAPT):c.1732+246C>T
NM_001377265.1(MAPT):c.1733-26G>A
NM_001377265.1(MAPT):c.1733-31T>C
NM_001377265.1(MAPT):c.1750G>A (p.Gly584Arg) rs1568303669
NM_001377265.1(MAPT):c.1762G>A (p.Gly588Ser)
NM_001377265.1(MAPT):c.176C>T (p.Pro59Leu)
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr) rs63750129
NM_001377265.1(MAPT):c.1954A>G (p.Ile652Val) rs63751249
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) rs63750376
NM_001377265.1(MAPT):c.1998+103G>A
NM_001377265.1(MAPT):c.1998+147C>T
NM_001377265.1(MAPT):c.1998+33G>A
NM_001377265.1(MAPT):c.1999-10G>T rs63749974
NM_001377265.1(MAPT):c.1999-168G>A
NM_001377265.1(MAPT):c.1999-176A>G
NM_001377265.1(MAPT):c.1999-47C>A
NM_001377265.1(MAPT):c.1999G>T (p.Val667Leu) rs1064797225
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.2028T>C (p.Leu676=) rs63751423
NM_001377265.1(MAPT):c.2052C>T (p.Gly684=) rs1598380419
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) rs63751392
NM_001377265.1(MAPT):c.2062A>C (p.Asn688His) rs63750416
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.2084G>T (p.Gly695Val) rs63751391
NM_001377265.1(MAPT):c.2090G>A (p.Ser697Asn) rs63751165
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)
NM_001377265.1(MAPT):c.2091+11T>C rs63751394
NM_001377265.1(MAPT):c.2091+12C>T rs63750916
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+3G>A rs63750013
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
NM_001377265.1(MAPT):c.2092-192C>T
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) rs63749855
NM_001377265.1(MAPT):c.2121G>A (p.Leu707=) rs63751231
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.2173+196C>T
NM_001377265.1(MAPT):c.2173+34G>A
NM_001377265.1(MAPT):c.2173+90G>A
NM_001377265.1(MAPT):c.2174-257dup
NM_001377265.1(MAPT):c.2174-323T>G
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser) rs63750095
NM_001377265.1(MAPT):c.2180G>T (p.Gly727Val) rs63750905
NM_001377265.1(MAPT):c.2183A>G (p.Gln728Arg) rs63750573
NM_001377265.1(MAPT):c.2185G>A (p.Val729Met) rs63750570
NM_001377265.1(MAPT):c.220+2202G>A
NM_001377265.1(MAPT):c.220+2277C>G
NM_001377265.1(MAPT):c.220+2278T>G
NM_001377265.1(MAPT):c.220+2301A>G
NM_001377265.1(MAPT):c.220+239G>A
NM_001377265.1(MAPT):c.220+2432G>A
NM_001377265.1(MAPT):c.220+2477C>G
NM_001377265.1(MAPT):c.220+2613G>A
NM_001377265.1(MAPT):c.220+2698T>C
NM_001377265.1(MAPT):c.2201A>T (p.Glu734Val) rs63750711
NM_001377265.1(MAPT):c.221-103T>A
NM_001377265.1(MAPT):c.221-94A>T
NM_001377265.1(MAPT):c.2242T>A (p.Ser748Thr) rs2076339915
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) rs63751264
NM_001377265.1(MAPT):c.2286+109G>C
NM_001377265.1(MAPT):c.2302C>G (p.Leu768Val) rs1598425089
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val) rs144397565
NM_001377265.1(MAPT):c.2341G>C (p.Gly781Arg) rs63750512
NM_001377265.1(MAPT):c.2495G>C (p.Gly832Ala)
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)
NM_001377265.1(MAPT):c.286+291C>G
NM_001377265.1(MAPT):c.303G>A (p.Pro101=)
NM_001377265.1(MAPT):c.427G>T (p.Ala143Ser)
NM_001377265.1(MAPT):c.464G>A (p.Arg155His)
NM_001377265.1(MAPT):c.547G>A (p.Glu183Lys)
NM_001377265.1(MAPT):c.756C>T (p.Asp252=) rs1358418932
NM_001377265.1(MAPT):c.757A>T (p.Thr253Ser) rs1598272763
NM_001377265.1(MAPT):c.761_762del (p.Glu254fs)
NM_001377265.1(MAPT):c.889C>T (p.Arg297Cys) rs150983093
NM_001377265.1(MAPT):c.898G>A (p.Asp300Asn)
NM_001377265.1(MAPT):c.90C>A (p.Thr30=) rs1598169231
NM_001377265.1(MAPT):c.921C>G (p.Ser307=)

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