ClinVar Miner

List of variants studied for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272

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