ClinVar Miner

List of variants in gene MAPT reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_001377265.1(MAPT):c.1732+2364C>T rs187760483 0.00195
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_001377265.1(MAPT):c.912C>G (p.Pro304=) rs142327009 0.00112
NM_001377265.1(MAPT):c.54C>T (p.Tyr18=) rs63750811 0.00024
NM_001377265.1(MAPT):c.1326C>T (p.Pro442=) rs201312701 0.00017
NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu) rs199644237 0.00014
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.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_001377265.1(MAPT):c.220+2477C>G rs375470008 0.00004
NM_001377265.1(MAPT):c.601C>T (p.Pro201Ser) rs776821664 0.00004
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.25G>A (p.Glu9Lys) rs762595428 0.00002
NM_001377265.1(MAPT):c.1011G>C (p.Glu337Asp) rs1157103342 0.00001
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=) rs373462041 0.00001
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=) rs377720312 0.00001
NM_001377265.1(MAPT):c.963C>G (p.Pro321=) rs550945297 0.00001
NM_001377265.1(MAPT):c.1218T>G (p.Pro406=)
NM_001377265.1(MAPT):c.1321A>C (p.Lys441Gln) rs1598276822
NM_001377265.1(MAPT):c.1478G>A (p.Gly493Asp) rs1555710393
NM_001377265.1(MAPT):c.150C>T (p.Thr50=)
NM_001377265.1(MAPT):c.1622C>T (p.Thr541Met)
NM_001377265.1(MAPT):c.1732+2365C>A
NM_001377265.1(MAPT):c.1732+2367C>A
NM_001377265.1(MAPT):c.1750G>A (p.Gly584Arg) rs1568303669
NM_001377265.1(MAPT):c.1762G>A (p.Gly588Ser) rs1400315970
NM_001377265.1(MAPT):c.1830A>C (p.Pro610=)
NM_001377265.1(MAPT):c.1998+40C>T
NM_001377265.1(MAPT):c.1999-10G>T rs63749974
NM_001377265.1(MAPT):c.1999G>T (p.Val667Leu) rs1064797225
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) rs63751392
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
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.2404A>C (p.Asn802His)
NM_001377265.1(MAPT):c.444C>T (p.Thr148=)
NM_001377265.1(MAPT):c.63G>A (p.Gly21=)
NM_001377265.1(MAPT):c.775G>A (p.Ala259Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.