ClinVar Miner

List of variants reported as benign for MAPT-Related Spectrum Disorders

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.*3858A>G rs7521 0.56622
NM_001377265.1(MAPT):c.*1145_*1146insT rs1491446284 0.40313
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
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.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.*26T>C rs9468 0.14547
NM_001377265.1(MAPT):c.*1101A>G rs1052590 0.14499
NM_005910.5(MAPT):c.-285A>G rs11575895 0.14499
NM_001377265.1(MAPT):c.*1759T>C rs7687 0.14487
NM_015443.4(KANSL1):c.*487C>T rs17652961 0.14478
NM_001377265.1(MAPT):c.-133C>A rs62056779 0.14475
NM_001377265.1(MAPT):c.*2806A>C rs2158257 0.14473
NM_001377265.1(MAPT):c.-13A>G rs17650901 0.14470
NM_001377265.1(MAPT):c.*1067T>C rs1052587 0.14468
NM_015443.4(KANSL1):c.3254T>C (p.Ile1085Thr) rs34579536 0.14468
NM_001377265.1(MAPT):c.*2972T>C rs17574228 0.14466
NM_001377265.1(MAPT):c.*1328A>C rs17574040 0.14462
NM_015443.4(KANSL1):c.*640T>C rs17574361 0.14457
NM_001377265.1(MAPT):c.*2288T>C rs75010486 0.14444
NM_001377265.1(MAPT):c.*2079C>T rs17652748 0.14441
NM_001377265.1(MAPT):c.*2289G>A rs16940806 0.14437
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=) rs35833914 0.14434
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=) rs36076725 0.14426
NM_001377265.1(MAPT):c.*2390_*2391insT rs35134656 0.14422
NM_001377265.1(MAPT):c.*1909_*1910del rs71760839 0.14410
NM_001377265.1(MAPT):c.*1396T>C rs16940799 0.14363
NM_001377265.1(MAPT):c.*334A>G rs8712 0.12761
NM_015443.4(KANSL1):c.*742G>A rs7350928 0.12614
NM_001377265.1(MAPT):c.*1152G>C rs1052594 0.12578
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_001377265.1(MAPT):c.*2269G>T rs73317039 0.03265
NM_001377265.1(MAPT):c.*76G>A rs73317038 0.03228
NM_001377265.1(MAPT):c.*3848A>G rs114213384 0.03189
NM_001377265.1(MAPT):c.*1047C>T rs113815715 0.02477
NM_001377265.1(MAPT):c.*2810G>A rs2158256 0.02237
NM_001377265.1(MAPT):c.*464G>A rs17574005 0.01741
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01528
NM_001377265.1(MAPT):c.*732C>A rs189413478 0.00262
NM_001377265.1(MAPT):c.*3951G>A rs368485438 0.00192
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
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.1638G>A (p.Pro546=) rs201046056 0.00004
NM_001377265.1(MAPT):c.220+2503C>T rs138293088 0.00002
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.1670A>G (p.Gln557Arg) rs568067396 0.00001
NM_001377265.1(MAPT):c.1776C>T (p.Pro592=) rs201057449 0.00001
NM_001377265.1(MAPT):c.*1206AC[1] rs66561280
NM_001377265.1(MAPT):c.*241dup rs55661512
NM_001377265.1(MAPT):c.*2743del rs5820606
NM_001377265.1(MAPT):c.*2876_*2878del rs35654420
NM_001377265.1(MAPT):c.*3040CTT[1] rs67656733
NM_001377265.1(MAPT):c.*3078=
NM_001377265.1(MAPT):c.*317dup rs55658521
NM_001377265.1(MAPT):c.*907CT[3] rs56289286
NM_001377265.1(MAPT):c.-42del rs144722105
NM_015443.4(KANSL1):c.*1235dup rs140510364
NM_015443.4(KANSL1):c.*1328del rs71665335
NM_015443.4(KANSL1):c.*1354del rs67641084
NM_015443.4(KANSL1):c.*1520del rs67801660
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC rs113448888
NM_015443.4(KANSL1):c.*885del rs5820607

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