ClinVar Miner

List of variants studied for hereditary dementia by Department of Neurology, Xijing Hospital, Fourth Military Medical University

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) rs546381069 0.00011
NM_001029896.2(WDR45):c.331C>T (p.Arg111Cys)
NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala) rs764286950

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