ClinVar Miner

List of variants in gene MAPT reported as pathogenic for Frontotemporal dementia

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Total variants: 20
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HGVS dbSNP
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959
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.2013T>G (p.Asn671Lys) rs63750756
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.2090G>A (p.Ser697Asn) rs63751165
NM_001377265.1(MAPT):c.2091+11T>C rs63751394
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+1G>A rs1568327531
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
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.2184G>C (p.Gln728His) rs1598408073
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.2392C>T (p.Arg798Trp) rs63750424

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