ClinVar Miner

List of variants reported as likely pathogenic for Frontotemporal dementia

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Total variants: 11
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NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_001131005.2(MEF2C):c.-143+4180_-143+4193del rs1085307051
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_002087.3(GRN):c.1179G>A (p.Glu393=) rs1567887777
NM_005910.5(MAPT):c.1052A>G (p.Gln351Arg) rs1568339821
NM_005910.5(MAPT):c.1090C>A (p.Pro364Thr) rs1598408336
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) rs1570725499

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