ClinVar Miner

List of variants in gene PURA reported as likely pathogenic for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 18
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NM_005859.5(PURA):c.-12_25del (p.Met1fs)
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del)
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.383_386dup (p.Pro130fs)
NM_005859.5(PURA):c.407_420dup (p.Ala142fs) rs1561793219
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) rs1581036396
NM_005859.5(PURA):c.449_456del (p.Arg150fs) rs1581036405
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_005859.5(PURA):c.496C>T (p.Arg166Cys) rs1554129096
NM_005859.5(PURA):c.503T>C (p.Leu168Pro) rs1581036449
NM_005859.5(PURA):c.50del (p.Ser17fs) rs1554129008
NM_005859.5(PURA):c.511C>G (p.Arg171Gly) rs1554129100
NM_005859.5(PURA):c.565G>C (p.Ala189Pro) rs1581036496
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.605T>C (p.Leu202Pro) rs1561793336
NM_005859.5(PURA):c.614T>C (p.Leu205Pro) rs1581036537
NM_005859.5(PURA):c.710C>T (p.Ser237Phe) rs886039899
NM_005859.5(PURA):c.779C>G (p.Pro260Arg)

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