ClinVar Miner

List of variants in gene MAPT reported as pathogenic by Institute of Human Genetics, Klinikum rechts der Isar

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) rs1598408073

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