ClinVar Miner

List of variants in gene PURA studied for Intellectual disability

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.159dup (p.Leu54fs)	rs1554129040
NM_005859.5(PURA):c.677_678del (p.Val226fs)	rs1064796830
NM_005859.5(PURA):c.955G>C (p.Gly319Arg)	rs1763059359

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