List of variants in gene PURA reported as pathogenic by Ambry Genetics

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.101del (p.Gly34fs)	rs1763036977
NM_005859.5(PURA):c.127_130del (p.Ser43fs)	rs1763038687
NM_005859.5(PURA):c.153del (p.Leu54fs)	rs1554129039
NM_005859.5(PURA):c.506G>C (p.Arg169Pro)	rs1554129099
NM_005859.5(PURA):c.531del (p.Pro178fs)	rs2126749210
NM_005859.5(PURA):c.533dup (p.Gly179fs)	rs1763049893
NM_005859.5(PURA):c.583_602del (p.Leu195fs)
NM_005859.5(PURA):c.641_645dup (p.Ala216fs)	rs1763052510
NM_005859.5(PURA):c.677_678del (p.Val226fs)	rs1064796830
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter)	rs1763053171
NM_005859.5(PURA):c.692T>C (p.Phe231Ser)	rs1554129113
NM_005859.5(PURA):c.7_11del (p.Asp3fs)	rs1554128999
NM_005859.5(PURA):c.927_940del (p.Thr310fs)	rs797044944

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