ClinVar Miner

List of variants in gene MAPT reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.896T>G (p.Val299Gly) rs141120474 0.00235
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00169
NM_001377265.1(MAPT):c.1884G>A (p.Pro628=) rs145897970 0.00002
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=) rs377720312 0.00001
NM_001377265.1(MAPT):c.1011G>C (p.Glu337Asp)
NM_001377265.1(MAPT):c.1321A>C (p.Lys441Gln) rs1598276822
NM_001377265.1(MAPT):c.1478G>A (p.Gly493Asp) rs1555710393
NM_001377265.1(MAPT):c.1750G>A (p.Gly584Arg) rs1568303669
NM_001377265.1(MAPT):c.1762G>A (p.Gly588Ser)
NM_001377265.1(MAPT):c.1999G>T (p.Val667Leu) rs1064797225
NM_001377265.1(MAPT):c.2302C>G (p.Leu768Val) rs1598425089
NM_001377265.1(MAPT):c.233G>T (p.Gly78Val) rs144397565
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)

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