ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_005859.5(PURA):c.289A>G (p.Lys97Glu) rs587782994
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.734G>C (p.Arg245Pro) rs1554129118
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991

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