ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 23
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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.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.1A>T (p.Met1Leu) rs793888530
NM_005859.5(PURA):c.205C>T (p.Gln69Ter) rs1554129045
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.382dup (p.Gln128fs) rs1561793211
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.619_625del (p.Asp207fs) rs1561793344
NM_005859.5(PURA):c.647_660del (p.Ala216fs)
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)
NM_005859.5(PURA):c.77C>A (p.Ser26Ter)
NM_005859.5(PURA):c.93del (p.Gly33fs)

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