ClinVar Miner

List of variants in gene MAPT studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_016835.4(MAPT):c.1108C>T (p.Arg370Trp) rs17651549
NM_016835.4(MAPT):c.1131C>A (p.Arg377=) rs776028517
NM_016835.4(MAPT):c.120C>T (p.Asp40=) rs191362093
NM_016835.4(MAPT):c.1280C>T (p.Ser427Phe) rs143956882
NM_016835.4(MAPT):c.1339T>C (p.Ser447Pro) rs10445337
NM_016835.4(MAPT):c.1398G>A (p.Thr466=) rs139748238
NM_016835.4(MAPT):c.1403T>C (p.Ile468Thr) rs114635790
NM_016835.4(MAPT):c.1405G>A (p.Ala469Thr) rs143624519
NM_016835.4(MAPT):c.1413G>A (p.Pro471=) rs201046056
NM_016835.4(MAPT):c.1482C>T (p.Pro494=) rs750910229
NM_016835.4(MAPT):c.1483G>A (p.Ala495Thr) rs63750612
NM_016835.4(MAPT):c.14G>A (p.Arg5His) rs63750959
NM_016835.4(MAPT):c.1507+2364C>T rs187760483
NM_016835.4(MAPT):c.1507+2367C>G rs267604921
NM_016835.4(MAPT):c.1577G>A (p.Arg526His) rs115492908
NM_016835.4(MAPT):c.1606C>T (p.Pro536Ser) rs1598326219
NM_016835.4(MAPT):c.1609A>C (p.Thr537Pro) rs1598326279
NM_016835.4(MAPT):c.1666G>A (p.Ala556Thr) rs63750096
NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) rs63750349
NM_016835.4(MAPT):c.1749G>A (p.Leu583=) rs373081497
NM_016835.4(MAPT):c.1761G>A (p.Pro587=) rs11568305
NM_016835.4(MAPT):c.1766G>T (p.Gly589Val) rs63750376
NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) rs63750756
NM_016835.4(MAPT):c.1789_1791AAG[1] (p.Lys598del) rs63750688
NM_016835.4(MAPT):c.1839T>C (p.Asn613=) rs63750912
NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser) rs63751438
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn) rs63751165
NM_016835.4(MAPT):c.1866+11T>C rs63751394
NM_016835.4(MAPT):c.1866+13A>G rs63750308
NM_016835.4(MAPT):c.1866+14C>T rs63750972
NM_016835.4(MAPT):c.1866+16C>T rs63751011
NM_016835.4(MAPT):c.1866+1G>A rs1568327531
NM_016835.4(MAPT):c.1866+29G>A rs63751443
NM_016835.4(MAPT):c.1866T>C (p.Ser622=) rs63750568
NM_016835.4(MAPT):c.1901A>T (p.Lys634Met) rs63750092
NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) rs63750635
NM_016835.4(MAPT):c.1959G>C (p.Gln653His) rs1598408073
NM_016835.4(MAPT):c.1960G>A (p.Val654Met) rs63750570
NM_016835.4(MAPT):c.1976A>T (p.Glu659Val) rs63750711
NM_016835.4(MAPT):c.2003A>G (p.Gln668Arg) rs1568339821
NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) rs63750869
NM_016835.4(MAPT):c.2041C>A (p.Pro681Thr) rs1598408336
NM_016835.4(MAPT):c.2088C>T (p.Arg696=) rs373462041
NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) rs63750424
NM_016835.4(MAPT):c.2181T>C (p.Asn727=) rs115381139
NM_016835.4(MAPT):c.271G>A (p.Ala91Thr) rs371071165
NM_016835.4(MAPT):c.272C>T (p.Ala91Val) rs780582778
NM_016835.4(MAPT):c.284C>T (p.Thr95Met) rs138293088
NM_016835.4(MAPT):c.349G>A (p.Glu117Lys)
NM_016835.4(MAPT):c.405_415del (p.Phe136fs) rs768990943
NM_016835.4(MAPT):c.418C>T (p.Pro140Ser) rs151115928
NM_016835.4(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_016835.4(MAPT):c.616G>T (p.Ala206Ser) rs1321460540
NM_016835.4(MAPT):c.623del (p.Gly208fs) rs773149360
NM_016835.4(MAPT):c.62G>T (p.Gly21Val) rs781076528
NM_016835.4(MAPT):c.637G>A (p.Gly213Arg) rs76375268
NM_016835.4(MAPT):c.664C>A (p.Arg222Ser) rs150983093
NM_016835.4(MAPT):c.687C>G (p.Pro229=) rs142327009
NM_016835.4(MAPT):c.689A>G (p.Gln230Arg) rs63750072
NM_016835.4(MAPT):c.748G>A (p.Ala250Thr) rs770014302
NM_016835.4(MAPT):c.783G>A (p.Ala261=) rs200385096
NM_016835.4(MAPT):c.798C>G (p.Pro266=) rs1382449748
NM_016835.4(MAPT):c.890C>T (p.Ala297Val) rs377402921
NM_016835.4(MAPT):c.912C>T (p.His304=) rs142283842

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