List of variants in gene PURA reported as pathogenic for developmental disorder of mental health

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)	rs587783000
NM_005859.5(PURA):c.265G>C (p.Ala89Pro)	rs587782999
NM_005859.5(PURA):c.289A>G (p.Lys97Glu)	rs587782994
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)	rs587782995
NM_005859.5(PURA):c.307_308del (p.Ser103fs)	rs587782992
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)	rs587782996
NM_005859.5(PURA):c.470T>A (p.Met157Lys)	rs587782998
NM_005859.5(PURA):c.556C>T (p.Gln186Ter)	rs587782993
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)	rs587783001
NM_005859.5(PURA):c.677_678del (p.Val226fs)	rs1064796830
NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)	rs587782997
NM_005859.5(PURA):c.812_814del (p.Phe271del)	rs587782991

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