ClinVar Miner

List of variants studied for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome by OMIM

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NM_005859.5(PURA):c.289A>G (p.Lys97Glu) rs587782994
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del) rs793888533
NM_005859.5(PURA):c.307_308del (p.Ser103fs) rs587782992
NM_005859.5(PURA):c.556C>T (p.Gln186Ter) rs587782993
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.616A>T (p.Ile206Phe) rs786204834
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.726_727del (p.Phe243fs) rs786204833
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991

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