ClinVar Miner

List of variants in gene MAPT reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.220+18C>T rs75242405 0.14617
NM_001377265.1(MAPT):c.-13A>G rs17650901 0.14470
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.12790
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03713
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01415
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00175
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001377265.1(MAPT):c.1326C>T (p.Pro442=)
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg) rs63749855

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