ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 41
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HGVS dbSNP
NC_000005.10:g.(?_140114162)_(140115170_?)del
NM_005859.5(PURA):c.10C>T (p.Arg4Ter) rs1561792945
NM_005859.5(PURA):c.119del (p.Gly40fs) rs1581036115
NM_005859.5(PURA):c.144del (p.Ala50fs)
NM_005859.5(PURA):c.148del (p.Ala50fs)
NM_005859.5(PURA):c.149_156dup (p.Gly53fs) rs1581036164
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.163C>T (p.Gln55Ter) rs1085307472
NM_005859.5(PURA):c.175C>T (p.Gln59Ter) rs1561793115
NM_005859.5(PURA):c.178G>T (p.Glu60Ter)
NM_005859.5(PURA):c.1A>T (p.Met1Leu) rs793888530
NM_005859.5(PURA):c.205C>T (p.Gln69Ter) rs1554129045
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.312del (p.Met104fs) rs1581036297
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter) rs1581036318
NM_005859.5(PURA):c.366_367dup (p.Gln123fs) rs1554129069
NM_005859.5(PURA):c.382dup (p.Gln128fs) rs1561793211
NM_005859.5(PURA):c.459dup (p.Lys154fs)
NM_005859.5(PURA):c.487C>T (p.Gln163Ter) rs1554129091
NM_005859.5(PURA):c.494_497dup (p.Phe167fs) rs1561793268
NM_005859.5(PURA):c.502dup (p.Leu168fs)
NM_005859.5(PURA):c.534_556dup (p.Gln186fs)
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.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.616A>T (p.Ile206Phe) rs786204834
NM_005859.5(PURA):c.619_625del (p.Asp207fs) rs1561793344
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) rs1581036558
NM_005859.5(PURA):c.647_660del (p.Ala216fs)
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.703del (p.Val235fs)
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)
NM_005859.5(PURA):c.725dup (p.Phe243fs) rs1554129114
NM_005859.5(PURA):c.726_727del (p.Phe243fs) rs786204833
NM_005859.5(PURA):c.734G>C (p.Arg245Pro) rs1554129118
NM_005859.5(PURA):c.77C>A (p.Ser26Ter)
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005859.5(PURA):c.93del (p.Gly33fs)

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