ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) rs63750512 0.00001
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2091+3G>A rs63750013
NM_001377265.1(MAPT):c.2242T>A (p.Ser748Thr) rs2076339915

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