ClinVar Miner

List of variants studied for hereditary dementia by Molecular Genetics Lab, CHRU Brest

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)

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