ClinVar Miner

List of variants in gene MAPT reported as pathogenic for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.1999-10G>T rs63749974
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
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.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+3G>A rs63750013
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) rs63749855

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