ClinVar Miner

List of variants in gene MAPT reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 20
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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.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.2349G>A (p.Glu783=) rs142776675 0.00011
NM_001377265.1(MAPT):c.1938G>A (p.Lys646=) rs141636979 0.00009
NM_001377265.1(MAPT):c.1676A>G (p.Asn559Ser) rs150420625 0.00007
NM_001377265.1(MAPT):c.2091+25C>T rs63750117 0.00003
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001377265.1(MAPT):c.1688T>C (p.Ile563Thr) rs1555711476 0.00001
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.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2091+3G>A rs63750013
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val) rs144397565

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