ClinVar Miner

List of variants in gene PSEN1 reported as likely pathogenic for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr) rs1566630884
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836

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