ClinVar Miner

List of variants in gene SNIP1 reported as pathogenic for Psychomotor retardation, epilepsy, and craniofacial dysmorphism

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_024700.4(SNIP1):c.1097A>G (p.Glu366Gly)	rs387906986	0.00008
NM_024700.4(SNIP1):c.1139_1142del (p.Asp380fs)	rs780076866

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