ClinVar Miner

List of variants reported as likely pathogenic for hereditary dementia by Neurogenetics, Cyprus Institute of Neurology and Genetics

Included ClinVar conditions (238):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NC_000023.11:g.48930034_48935858del
NM_013254.4(TBK1):c.1760+1G>A
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) rs2141135900

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