ClinVar Miner

List of variants in gene LOC126805704, SNIP1 studied for psychomotor retardation, epilepsy, and craniofacial dysmorphism

Included ClinVar conditions (1):

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
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024700.4(SNIP1):c.328-3T>C	rs2174769	0.74089
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys)	rs202020647	0.00014
NM_024700.4(SNIP1):c.445C>T (p.Gln149Ter)
NM_024700.4(SNIP1):c.794A>T (p.Lys265Ile)

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