ClinVar Miner

List of variants studied for hereditary dementia by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly)
NM_003560.4(PLA2G6):c.196_197del (p.Gln66fs)
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)

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