ClinVar Miner

List of variants in gene CIZ1, DNM1 studied for Cerebellar ataxia; Global developmental delay; Seizure; Stereotypic movement disorder; Epileptic encephalopathy; Hypotonia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_004408.4(DNM1):c.139G>A (p.Val47Met)	rs869312702

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