ClinVar Miner

List of variants in gene MAPT reported as likely benign for MAPT-Related Spectrum Disorders

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001377265.1(MAPT):c.2079G>A (p.Pro693=) rs63751395 0.00010
NM_001377265.1(MAPT):c.*49G>A rs367621316 0.00008
NM_001377265.1(MAPT):c.220+2450A>G rs773274633 0.00004
NM_001377265.1(MAPT):c.2457G>A (p.Thr819=) rs369954009 0.00003
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001377265.1(MAPT):c.1632C>A (p.Ala544=) rs757701420 0.00002
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=) rs377720312 0.00001
NM_001377265.1(MAPT):c.*2616_*2618dup rs375986662
NM_001377265.1(MAPT):c.*65AAT[1] rs564954259
NM_001377265.1(MAPT):c.1974G>A (p.Leu658=) rs373081497

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