ClinVar Miner

List of variants in gene CIC reported as uncertain significance for Neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001386298.1(CIC):c.5219C>T (p.Thr1740Met)	rs2038076592	0.00001
NM_001386298.1(CIC):c.1449G>C (p.Lys483Asn)	rs2513604621

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