ClinVar Miner

List of variants reported as uncertain significance for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NC_000005.9:g.(?_136633338)_(140998481_?)dup
NM_005859.5(PURA):c.100G>A (p.Gly34Ser)
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del)
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)
NM_005859.5(PURA):c.102_119dup (p.Gly37_Gly42dup)
NM_005859.5(PURA):c.105_131del (p.Gly41_Gly49del) rs1433370088
NM_005859.5(PURA):c.109G>T (p.Gly37Cys)
NM_005859.5(PURA):c.110G>C (p.Gly37Ala) rs1430796646
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del) rs761730239
NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup)
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del)
NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del)
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup) rs1039658835
NM_005859.5(PURA):c.127_138del (p.Ser43_Gly46del) rs756194966
NM_005859.5(PURA):c.127_138dup (p.Ser43_Gly46dup)
NM_005859.5(PURA):c.132CGG[2] (p.Gly47_Gly49del)
NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del) rs754074166
NM_005859.5(PURA):c.146G>T (p.Gly49Val) rs773489265
NM_005859.5(PURA):c.155G>A (p.Gly52Glu)
NM_005859.5(PURA):c.155G>T (p.Gly52Val)
NM_005859.5(PURA):c.268G>C (p.Glu90Gln)
NM_005859.5(PURA):c.278C>T (p.Ala93Val)
NM_005859.5(PURA):c.334G>C (p.Asp112His)
NM_005859.5(PURA):c.385C>T (p.Pro129Ser)
NM_005859.5(PURA):c.394C>G (p.Leu132Val) rs746218892
NM_005859.5(PURA):c.40G>C (p.Ala14Pro) rs1046152089
NM_005859.5(PURA):c.43C>A (p.Leu15Met) rs923665124
NM_005859.5(PURA):c.478_480del (p.Lys160del)
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_005859.5(PURA):c.517A>G (p.Thr173Ala)
NM_005859.5(PURA):c.518C>A (p.Thr173Lys)
NM_005859.5(PURA):c.58T>C (p.Ser20Pro)
NM_005859.5(PURA):c.595C>T (p.Arg199Cys)
NM_005859.5(PURA):c.634G>C (p.Glu212Gln) rs1561793355
NM_005859.5(PURA):c.638A>T (p.Glu213Val)
NM_005859.5(PURA):c.674C>T (p.Thr225Ile)
NM_005859.5(PURA):c.70C>T (p.Pro24Ser)
NM_005859.5(PURA):c.769A>G (p.Ile257Val)
NM_005859.5(PURA):c.779C>T (p.Pro260Leu) rs1064795567
NM_005859.5(PURA):c.787_789del (p.Val263del) rs1581036663
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4]) rs763926656
NM_005859.5(PURA):c.884_892del (p.Leu295_Gln297del)
NM_005859.5(PURA):c.88_93del (p.26SG[2])
NM_005859.5(PURA):c.895dup (p.Gln299fs)
NM_005859.5(PURA):c.898CAG[5] (p.Gln303dup)
NM_005859.5(PURA):c.919G>A (p.Ala307Thr) rs751843411
NM_005859.5(PURA):c.922G>A (p.Ala308Thr) rs1286829864
NM_005859.5(PURA):c.925G>C (p.Ala309Pro)
NM_005859.5(PURA):c.941A>C (p.Gln314Pro)
NM_005859.5(PURA):c.950A>T (p.Glu317Val) rs1581036746

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