ClinVar Miner

List of variants studied for Frontotemporal dementia by Mendelics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.14348
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro) rs1598326279
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) rs1570725499

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