ClinVar Miner

List of variants studied for cerebellar dysfunction with variable cognitive and behavioral abnormalities by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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_015215.4(CAMTA1):c.2840C>T (p.Ser947Leu) rs113652510
NM_015215.4(CAMTA1):c.2914+2448del
NM_015215.4(CAMTA1):c.968G>A (p.Arg323His)

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