List of variants reported as likely pathogenic for obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome by Invitae

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005859.5(PURA):c.265G>C (p.Ala89Pro)	rs587782999
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)	rs793888527
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)	rs587783001
NM_005859.5(PURA):c.779C>G (p.Pro260Arg)	rs1064795567

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