ClinVar Miner

List of variants studied for cerebellar dysfunction with variable cognitive and behavioral abnormalities by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015215.4(CAMTA1):c.4618-1G>A

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