List of variants in gene MAPT reported as likely benign for Frontotemporal dementia

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: 101

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HGVS	dbSNP	gnomAD frequency
NM_001377265.1(MAPT):c.1628T>C (p.Ile543Thr)	rs114635790	0.00217
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)	rs143956882	0.00160
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)	rs116733906	0.00109
NM_001377265.1(MAPT):c.50C>T (p.Thr17Met)	rs144611688	0.00080
NM_001377265.1(MAPT):c.120C>T (p.Asp40=)	rs191362093	0.00064
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=)	rs63750811	0.00024
NM_001377265.1(MAPT):c.273T>C (p.Gly91=)	rs141556635	0.00019
NM_001377265.1(MAPT):c.1854G>A (p.Val618=)	rs114900761	0.00018
NM_001377265.1(MAPT):c.1998+15C>T	rs749726538	0.00018
NM_001377265.1(MAPT):c.2262C>T (p.His754=)	rs747658161	0.00013
NM_001377265.1(MAPT):c.2349G>A (p.Glu783=)	rs142776675	0.00011
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=)	rs63751395	0.00010
NM_001377265.1(MAPT):c.1137C>T (p.His379=)	rs142283842	0.00009
NM_001377265.1(MAPT):c.1623G>A (p.Thr541=)	rs139748238	0.00008
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=)	rs141636979	0.00008
NM_001377265.1(MAPT):c.1008G>A (p.Ala336=)	rs200385096	0.00007
NM_001377265.1(MAPT):c.1407+10C>T	rs753863073	0.00006
NM_001377265.1(MAPT):c.1998+19G>A	rs548267703	0.00006
NM_001377265.1(MAPT):c.2271C>T (p.Gly757=)	rs148501218	0.00006
NM_001377265.1(MAPT):c.1733-12C>T	rs373115116	0.00005
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)	rs115142761	0.00005
NM_001377265.1(MAPT):c.220+2480G>A	rs368318765	0.00005
NM_001377265.1(MAPT):c.2451C>T (p.Leu817=)	rs200637464	0.00005
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.177G>A (p.Pro59=)	rs370131551	0.00004
NM_001377265.1(MAPT):c.220+2450A>G	rs773274633	0.00004
NM_001377265.1(MAPT):c.220+2477C>G	rs375470008	0.00004
NM_001377265.1(MAPT):c.2319C>T (p.Asn773=)	rs746312281	0.00004
NM_001377265.1(MAPT):c.42C>T (p.His14=)	rs759306195	0.00004
NM_001377265.1(MAPT):c.133+16T>C	rs758376338	0.00003
NM_001377265.1(MAPT):c.1377C>T (p.Asp459=)	rs371173110	0.00003
NM_001377265.1(MAPT):c.1707C>T (p.Pro569=)	rs750910229	0.00003
NM_001377265.1(MAPT):c.1767C>T (p.Tyr589=)	rs750316359	0.00003
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=)	rs145897970	0.00003
NM_001377265.1(MAPT):c.1890C>T (p.Ser630=)	rs372356754	0.00003
NM_001377265.1(MAPT):c.1998+20C>T	rs201301204	0.00003
NM_001377265.1(MAPT):c.2034C>T (p.Asn678=)	rs779043983	0.00003
NM_001377265.1(MAPT):c.1632C>A (p.Ala544=)	rs757701420	0.00002
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=)	rs201057449	0.00002
NM_001377265.1(MAPT):c.1992C>T (p.Gly664=)	rs777340451	0.00002
NM_001377265.1(MAPT):c.216G>A (p.Ala72=)	rs781640412	0.00002
NM_001377265.1(MAPT):c.220+2538C>G	rs368845248	0.00002
NM_001377265.1(MAPT):c.2346G>A (p.Ala782=)	rs771974951	0.00002
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)	rs377720312	0.00002
NM_001377265.1(MAPT):c.36A>G (p.Glu12=)	rs375852870	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.1356C>A (p.Arg452=)	rs776028517	0.00001
NM_001377265.1(MAPT):c.1407+11G>A	rs779054969	0.00001
NM_001377265.1(MAPT):c.1407+18C>T	rs957054703	0.00001
NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys)	rs986393575	0.00001
NM_001377265.1(MAPT):c.1606-18A>G	rs768569432	0.00001
NM_001377265.1(MAPT):c.1677C>T (p.Asn559=)	rs1165068407	0.00001
NM_001377265.1(MAPT):c.1733-5C>T	rs1477886908	0.00001
NM_001377265.1(MAPT):c.1866T>C (p.Arg622=)	rs778876874	0.00001
NM_001377265.1(MAPT):c.18G>A (p.Gln6=)	rs769584478	0.00001
NM_001377265.1(MAPT):c.1956C>T (p.Ile652=)	rs753776994	0.00001
NM_001377265.1(MAPT):c.2091+17G>A	rs762590440	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.2418C>T (p.Thr806=)	rs749816245	0.00001
NM_001377265.1(MAPT):c.2445C>G (p.Pro815=)	rs140985540	0.00001
NM_001377265.1(MAPT):c.261C>T (p.Asp87=)	rs768654750	0.00001
NM_001377265.1(MAPT):c.39T>C (p.Asp13=)	rs760999100	0.00001
NM_001377265.1(MAPT):c.58T>C (p.Leu20=)	rs757284182	0.00001
NM_001377265.1(MAPT):c.973G>A (p.Ala325Thr)	rs770014302	0.00001
NM_001377265.1(MAPT):c.133+19A>G
NM_001377265.1(MAPT):c.133+7G>A	rs2509445220
NM_001377265.1(MAPT):c.134-20G>C	rs887445106
NM_001377265.1(MAPT):c.153C>A (p.Pro51=)	rs1263653688
NM_001377265.1(MAPT):c.1606-19T>C	rs749550393
NM_001377265.1(MAPT):c.1629C>T (p.Ile543=)	rs759212591
NM_001377265.1(MAPT):c.1704G>T (p.Pro568=)	rs1052551
NM_001377265.1(MAPT):c.1732+8_1732+10del	rs745595533
NM_001377265.1(MAPT):c.1733-14T>C	rs2145830502
NM_001377265.1(MAPT):c.1749A>C (p.Ser583=)	rs537287798
NM_001377265.1(MAPT):c.1752G>A (p.Gly584=)	rs1016517620
NM_001377265.1(MAPT):c.177G>C (p.Pro59=)	rs370131551
NM_001377265.1(MAPT):c.1794C>T (p.Pro598=)	rs747831502
NM_001377265.1(MAPT):c.180C>A (p.Gly60=)
NM_001377265.1(MAPT):c.1815G>A (p.Pro605=)	rs201157234
NM_001377265.1(MAPT):c.1995G>C (p.Gly665=)	rs746497810
NM_001377265.1(MAPT):c.1999-6C>A	rs2510146547
NM_001377265.1(MAPT):c.2092-18C>A	rs527604171
NM_001377265.1(MAPT):c.2174-14G>T
NM_001377265.1(MAPT):c.220+10C>A
NM_001377265.1(MAPT):c.220+10C>G
NM_001377265.1(MAPT):c.220+11C>G
NM_001377265.1(MAPT):c.220+2477C>A	rs375470008
NM_001377265.1(MAPT):c.2205G>A (p.Lys735=)	rs2510233924
NM_001377265.1(MAPT):c.2232G>C (p.Ser744=)	rs754743520
NM_001377265.1(MAPT):c.2268T>C (p.Pro756=)	rs2510234643
NM_001377265.1(MAPT):c.2287-12C>T	rs2510276350
NM_001377265.1(MAPT):c.2313C>A (p.Arg771=)	rs373462041
NM_001377265.1(MAPT):c.2328C>T (p.Ala776=)	rs2146223739
NM_001377265.1(MAPT):c.2436A>C (p.Val812=)	rs2510278811
NM_001377265.1(MAPT):c.2466C>T (p.Asp822=)
NM_001377265.1(MAPT):c.276C>T (p.His92=)
NM_001377265.1(MAPT):c.756C>T (p.Asp252=)	rs1358418932
NM_001377265.1(MAPT):c.841G>T (p.Ala281Ser)	rs1321460540

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