ClinVar Miner

List of variants in gene MAPT reported as pathogenic for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_016835.4(MAPT):c.14G>A (p.Arg5His) rs63750959
NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) rs63750349
NM_016835.4(MAPT):c.1766G>T (p.Gly589Val) rs63750376
NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) rs63750756
NM_016835.4(MAPT):c.1839T>C (p.Asn613=) rs63750912
NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser) rs63751438
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn) rs63751165
NM_016835.4(MAPT):c.1866+11T>C rs63751394
NM_016835.4(MAPT):c.1866+13A>G rs63750308
NM_016835.4(MAPT):c.1866+14C>T rs63750972
NM_016835.4(MAPT):c.1866+16C>T rs63751011
NM_016835.4(MAPT):c.1866+1G>A rs1568327531
NM_016835.4(MAPT):c.1866T>C (p.Ser622=) rs63750568
NM_016835.4(MAPT):c.1901A>T (p.Lys634Met) rs63750092
NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) rs63750635
NM_016835.4(MAPT):c.1959G>C (p.Gln653His) rs1598408073
NM_016835.4(MAPT):c.1960G>A (p.Val654Met) rs63750570
NM_016835.4(MAPT):c.1976A>T (p.Glu659Val) rs63750711
NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) rs63750424

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