ClinVar Miner

List of variants studied for cerebellar dysfunction with variable cognitive and behavioral abnormalities by Institute of Human Genetics, University Hospital of Duesseldorf

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006237.4(POU4F1):c.445G>A (p.Gly149Ser)
NM_015215.4(CAMTA1):c.1580T>G (p.Val527Gly)
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)

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