ClinVar Miner

List of variants in gene PURA reported as pathogenic for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.(?_140114162)_(140115170_?)del
NM_005859.5(PURA):c.10C>T (p.Arg4Ter) rs1561792945
NM_005859.5(PURA):c.116del (p.Gly39fs)
NM_005859.5(PURA):c.119del (p.Gly40fs) rs1581036115
NM_005859.5(PURA):c.144del (p.Ala50fs) rs1763039753
NM_005859.5(PURA):c.148del (p.Ala50fs) rs1554129035
NM_005859.5(PURA):c.149_156dup (p.Gly53fs) rs1581036164
NM_005859.5(PURA):c.159del (p.Leu54fs)
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.163C>T (p.Gln55Ter) rs1085307472
NM_005859.5(PURA):c.169G>T (p.Glu57Ter) rs2126748783
NM_005859.5(PURA):c.175C>T (p.Gln59Ter) rs1561793115
NM_005859.5(PURA):c.178G>T (p.Glu60Ter) rs1763041722
NM_005859.5(PURA):c.1A>G (p.Met1Val) rs793888530
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.20del (p.Gly7fs)
NM_005859.5(PURA):c.217T>G (p.Phe73Val)
NM_005859.5(PURA):c.224T>G (p.Leu75Arg) rs1554129049
NM_005859.5(PURA):c.228del (p.Asp76fs)
NM_005859.5(PURA):c.235C>T (p.Gln79Ter) rs2126748843
NM_005859.5(PURA):c.25G>T (p.Glu9Ter)
NM_005859.5(PURA):c.265G>C (p.Ala89Pro) rs587782999
NM_005859.5(PURA):c.267del (p.Glu90fs) rs1064793665
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.2T>C (p.Met1Thr)
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.310dup (p.Met104fs) rs2126748922
NM_005859.5(PURA):c.312del (p.Met104fs) rs1581036297
NM_005859.5(PURA):c.331del (p.Arg111fs)
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter) rs1581036318
NM_005859.5(PURA):c.362dup (p.Tyr121Ter) rs2126748969
NM_005859.5(PURA):c.366_367dup (p.Gln123fs) rs1554129069
NM_005859.5(PURA):c.3G>A (p.Met1Ile)
NM_005859.5(PURA):c.459dup (p.Lys154fs) rs1763047286
NM_005859.5(PURA):c.45_60dup (p.Leu21fs) rs1581036015
NM_005859.5(PURA):c.460A>T (p.Lys154Ter)
NM_005859.5(PURA):c.478A>T (p.Lys160Ter)
NM_005859.5(PURA):c.487C>T (p.Gln163Ter) rs1554129091
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_005859.5(PURA):c.493G>T (p.Gly165Cys)
NM_005859.5(PURA):c.494_497dup (p.Phe167fs) rs1561793268
NM_005859.5(PURA):c.502dup (p.Leu168fs) rs2126749156
NM_005859.5(PURA):c.512G>C (p.Arg171Pro) rs2126749179
NM_005859.5(PURA):c.530_531dup (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.531del (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.534_556dup (p.Gln186fs) rs1763049807
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.572C>T (p.Pro191Leu) rs1064795165
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.629del (p.Gly210fs) rs2126749287
NM_005859.5(PURA):c.62del (p.Leu21fs)
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) rs1581036558
NM_005859.5(PURA):c.647_660del (p.Ala216fs) rs2126749301
NM_005859.5(PURA):c.671del (p.Ser223_Leu224insTer)
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.685A>T (p.Lys229Ter) rs1057524637
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.703del (p.Val235fs) rs1763053563
NM_005859.5(PURA):c.715A>T (p.Lys239Ter) rs2126749353
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) rs1763053854
NM_005859.5(PURA):c.723_736dup (p.Val246fs)
NM_005859.5(PURA):c.725dup (p.Phe243fs) rs1554129114
NM_005859.5(PURA):c.726_727del (p.Phe243fs) rs786204833
NM_005859.5(PURA):c.74del (p.Gly25fs) rs2126748581
NM_005859.5(PURA):c.77C>A (p.Ser26Ter) rs1763036339
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005859.5(PURA):c.895dup (p.Gln299fs) rs2126749469
NM_005859.5(PURA):c.928dup (p.Thr310fs)
NM_005859.5(PURA):c.98dup (p.Gly34fs)

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