ClinVar Miner

List of variants in gene MAPT reported by VIB Department of Molecular Genetics, University of Antwerp

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Total variants: 61
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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.1857A>G (p.Ala619=) rs1052553 0.14782
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.830C>T (p.Pro277Leu) rs63750417 0.14668
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn) rs62063786 0.14666
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.14662
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=) rs63750222 0.10563
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01528
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_001377265.1(MAPT):c.117G>A (p.Thr39=) rs63750529 0.00154
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_001377265.1(MAPT):c.1332C>T (p.Ser444=) rs63750862 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.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys) rs63750191 0.00002
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu) rs63750425 0.00001
NM_001377265.1(MAPT):c.2456C>T (p.Thr819Met) rs63750991 0.00001
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu) rs63750959
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.1999-10G>T rs63749974
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.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.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.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.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.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.2201A>T (p.Glu734Val) rs63750711
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile) rs63751264
NM_001377265.1(MAPT):c.2341G>C (p.Gly781Arg) rs63750512

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