List of variants in gene PURA reported as pathogenic by GeneDx

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.116dup (p.Gly40fs)	rs886041754
NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs)	rs1554129000
NM_005859.5(PURA):c.159dup (p.Leu54fs)	rs1554129040
NM_005859.5(PURA):c.163C>T (p.Gln55Ter)	rs1085307472
NM_005859.5(PURA):c.171_172dup (p.Thr58fs)	rs2126748787
NM_005859.5(PURA):c.173_174insT (p.Gln59fs)	rs1064795465
NM_005859.5(PURA):c.1A>G (p.Met1Val)	rs793888530
NM_005859.5(PURA):c.205C>T (p.Gln69Ter)	rs1554129045
NM_005859.5(PURA):c.214C>A (p.Arg72Ser)
NM_005859.5(PURA):c.264del (p.Ile88fs)	rs1064793761
NM_005859.5(PURA):c.267del (p.Glu90fs)	rs1064793665
NM_005859.5(PURA):c.281del (p.Gly94fs)	rs1581036262
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)	rs793888533
NM_005859.5(PURA):c.305T>G (p.Leu102Arg)	rs793888531
NM_005859.5(PURA):c.307_308dup (p.Met104fs)	rs587782992
NM_005859.5(PURA):c.325G>T (p.Glu109Ter)	rs1554129064
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)	rs587782996
NM_005859.5(PURA):c.38del (p.Ala13fs)	rs1581036001
NM_005859.5(PURA):c.42_57del (p.Leu15fs)	rs886041894
NM_005859.5(PURA):c.451G>T (p.Glu151Ter)	rs1554129089
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)	rs886039610
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)	rs1581036015
NM_005859.5(PURA):c.478A>C (p.Lys160Gln)
NM_005859.5(PURA):c.487C>T (p.Gln163Ter)	rs1554129091
NM_005859.5(PURA):c.4_8del (p.Ala2fs)	rs793888537
NM_005859.5(PURA):c.53dup (p.Gly19fs)	rs1581036040
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)	rs587783001
NM_005859.5(PURA):c.66dup (p.His23fs)	rs1581036051
NM_005859.5(PURA):c.677_678del (p.Val226fs)	rs1064796830
NM_005859.5(PURA):c.685A>T (p.Lys229Ter)	rs1057524637
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	rs786204835
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)	rs1554129113
NM_005859.5(PURA):c.711dup (p.Asn238fs)	rs886042017
NM_005859.5(PURA):c.733C>T (p.Arg245Ter)	rs1554129116
NM_005859.5(PURA):c.745del (p.Glu248_Val249insTer)	rs793888539
NM_005859.5(PURA):c.802G>T (p.Gly268Ter)	rs2126749415
NM_005859.5(PURA):c.812_814del (p.Phe271del)	rs587782991

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