ClinVar Miner

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

Included ClinVar conditions (2):
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Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.(?_140114162)_(140115170_?)del
NC_000005.10:g.140113537_140114444delinsGAGGTGGG
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) rs1763039753
NM_005859.5(PURA):c.148del (p.Ala50fs) rs1554129035
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.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.25G>T (p.Glu9Ter)
NM_005859.5(PURA):c.267del (p.Glu90fs) rs1064793665
NM_005859.5(PURA):c.2T>C (p.Met1Thr)
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.339C>G (p.Tyr113Ter) rs1581036318
NM_005859.5(PURA):c.380dup (p.Ser127fs)
NM_005859.5(PURA):c.382dup (p.Gln128fs) rs1561793211
NM_005859.5(PURA):c.387dup (p.Pro130fs) rs2126749006
NM_005859.5(PURA):c.389del (p.Pro130fs) rs2126749009
NM_005859.5(PURA):c.3G>A (p.Met1Ile)
NM_005859.5(PURA):c.433dup (p.Ser145fs)
NM_005859.5(PURA):c.459dup (p.Lys154fs) rs1763047286
NM_005859.5(PURA):c.45_60dup (p.Leu21fs) rs1581036015
NM_005859.5(PURA):c.478A>T (p.Lys160Ter)
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) rs2126749156
NM_005859.5(PURA):c.619_625del (p.Asp207fs) rs1561793344
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.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter) rs1763053854
NM_005859.5(PURA):c.77C>A (p.Ser26Ter) rs1763036339
NM_005859.5(PURA):c.895dup (p.Gln299fs) rs2126749469
NM_005859.5(PURA):c.928dup (p.Thr310fs)

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