List of variants reported as pathogenic for PURA Syndrome

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.116dup (p.Gly40fs)	rs886041754
NM_005859.5(PURA):c.178G>T (p.Glu60Ter)	rs1763041722
NM_005859.5(PURA):c.424dup (p.Ala142fs)	rs1581036383
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	rs786204835
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)	rs1763053854

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