ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 20
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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.2349G>A (p.Glu783=) rs142776675 0.00011
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.2313C>T (p.Arg771=) rs373462041 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.150C>T (p.Thr50=)
NM_001377265.1(MAPT):c.1732+2365C>A
NM_001377265.1(MAPT):c.1830A>C (p.Pro610=)
NM_001377265.1(MAPT):c.1998+40C>T
NM_001377265.1(MAPT):c.444C>T (p.Thr148=)
NM_001377265.1(MAPT):c.63G>A (p.Gly21=)

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