ClinVar Miner

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

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_005859.5(PURA):c.155G>A (p.Gly52Glu) rs763614822 0.00001
NM_005859.5(PURA):c.394C>G (p.Leu132Val) rs746218892 0.00001
NM_005859.5(PURA):c.79G>C (p.Gly27Arg) rs1470806491 0.00001
NM_005859.5(PURA):c.847G>C (p.Glu283Gln) rs750482815 0.00001
NM_005859.5(PURA):c.919G>A (p.Ala307Thr) rs751843411 0.00001
NC_000005.9:g.(?_136633338)_(140998481_?)dup
NC_000005.9:g.(?_136957787)_(140078137_?)dup
NM_005859.5(PURA):c.102TGG[3] (p.Gly42_Ser43insGly)
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del) rs1053480508
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del) rs1184201512
NM_005859.5(PURA):c.102_125del (p.Gly35_Gly42del)
NM_005859.5(PURA):c.102_137dup (p.Gly49_Ala50insGlyGlyGlyGlyGlySerGlyGlyGlyGlyGlyGly)
NM_005859.5(PURA):c.108_113del (p.Gly41_Gly42del)
NM_005859.5(PURA):c.109G>T (p.Gly37Cys) rs1763037641
NM_005859.5(PURA):c.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
NM_005859.5(PURA):c.112_126dup (p.Gly38_Gly42dup) rs1561793030
NM_005859.5(PURA):c.114_119del (p.Gly41_Gly42del) rs2126748653
NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup) rs761730239
NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del)
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del) rs1271325628
NM_005859.5(PURA):c.114_140dup (p.Gly49_Ala50insGlyGlySerGlyGlyGlyGlyGlyGly)
NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del) rs1763037560
NM_005859.5(PURA):c.127_138dup (p.Ser43_Gly46dup) rs756194966
NM_005859.5(PURA):c.129T>C (p.Ser43=)
NM_005859.5(PURA):c.132CGG[8] (p.Gly49_Ala50insGlyGlyGly)
NM_005859.5(PURA):c.180G>A (p.Glu60=)
NM_005859.5(PURA):c.185C>T (p.Ala62Val) rs2126748800
NM_005859.5(PURA):c.194G>T (p.Arg65Leu)
NM_005859.5(PURA):c.197T>A (p.Val66Glu)
NM_005859.5(PURA):c.203_211del (p.Ile68_Asn70del)
NM_005859.5(PURA):c.215G>A (p.Arg72His) rs2126748830
NM_005859.5(PURA):c.232A>G (p.Lys78Glu)
NM_005859.5(PURA):c.236A>C (p.Gln79Pro)
NM_005859.5(PURA):c.275G>C (p.Gly92Ala) rs2126748878
NM_005859.5(PURA):c.29A>T (p.Gln10Leu)
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) rs793888531
NM_005859.5(PURA):c.34G>T (p.Gly12Cys) rs2126748529
NM_005859.5(PURA):c.363C>T (p.Tyr121=)
NM_005859.5(PURA):c.385C>T (p.Pro129Ser) rs1763045680
NM_005859.5(PURA):c.38C>T (p.Ala13Val)
NM_005859.5(PURA):c.419G>C (p.Arg140Pro) rs793888536
NM_005859.5(PURA):c.425C>A (p.Ala142Glu)
NM_005859.5(PURA):c.426G>C (p.Ala142=)
NM_005859.5(PURA):c.436G>A (p.Glu146Lys) rs1763047012
NM_005859.5(PURA):c.43C>A (p.Leu15Met) rs923665124
NM_005859.5(PURA):c.43C>G (p.Leu15Val)
NM_005859.5(PURA):c.441C>T (p.Phe147=)
NM_005859.5(PURA):c.456C>T (p.Asn152=)
NM_005859.5(PURA):c.458G>C (p.Arg153Pro) rs886039610
NM_005859.5(PURA):c.461A>G (p.Lys154Arg)
NM_005859.5(PURA):c.478_480del (p.Lys160del) rs1763048440
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_005859.5(PURA):c.508A>T (p.Ile170Phe)
NM_005859.5(PURA):c.518C>A (p.Thr173Lys) rs745982412
NM_005859.5(PURA):c.524A>G (p.Asn175Ser)
NM_005859.5(PURA):c.547A>G (p.Thr183Ala)
NM_005859.5(PURA):c.54C>T (p.Gly18=)
NM_005859.5(PURA):c.55G>A (p.Gly19Ser) rs2126748559
NM_005859.5(PURA):c.585C>T (p.Leu195=)
NM_005859.5(PURA):c.58T>C (p.Ser20Pro) rs1763035593
NM_005859.5(PURA):c.595C>T (p.Arg199Cys) rs1763051347
NM_005859.5(PURA):c.626A>T (p.Tyr209Phe)
NM_005859.5(PURA):c.634G>C (p.Glu212Gln) rs1561793355
NM_005859.5(PURA):c.638A>T (p.Glu213Val) rs1763052435
NM_005859.5(PURA):c.651G>T (p.Glu217Asp)
NM_005859.5(PURA):c.65G>A (p.Gly22Glu) rs2126748571
NM_005859.5(PURA):c.666C>T (p.Thr222=)
NM_005859.5(PURA):c.66G>C (p.Gly22=)
NM_005859.5(PURA):c.674C>T (p.Thr225Ile) rs1763053031
NM_005859.5(PURA):c.692T>G (p.Phe231Cys) rs1554129113
NM_005859.5(PURA):c.6G>C (p.Ala2=)
NM_005859.5(PURA):c.72C>T (p.Pro24=)
NM_005859.5(PURA):c.73G>A (p.Gly25Ser) rs1561792992
NM_005859.5(PURA):c.757T>G (p.Tyr253Asp)
NM_005859.5(PURA):c.762C>A (p.Arg254=)
NM_005859.5(PURA):c.763A>G (p.Asn255Asp)
NM_005859.5(PURA):c.769A>G (p.Ile257Val) rs770307150
NM_005859.5(PURA):c.779C>T (p.Pro260Leu) rs1064795567
NM_005859.5(PURA):c.77C>T (p.Ser26Leu) rs1763036339
NM_005859.5(PURA):c.787_789del (p.Val263del) rs1581036663
NM_005859.5(PURA):c.78G>A (p.Ser26=)
NM_005859.5(PURA):c.82T>C (p.Ser28Pro) rs1554129019
NM_005859.5(PURA):c.849G>C (p.Glu283Asp)
NM_005859.5(PURA):c.851A>C (p.Lys284Thr)
NM_005859.5(PURA):c.869C>T (p.Ala290Val)
NM_005859.5(PURA):c.872C>T (p.Ala291Val)
NM_005859.5(PURA):c.875G>C (p.Cys292Ser)
NM_005859.5(PURA):c.884_892del (p.Leu295_Gln297del) rs1763056656
NM_005859.5(PURA):c.88_93del (p.26SG[2]) rs1763036497
NM_005859.5(PURA):c.900G>A (p.Gln300=)
NM_005859.5(PURA):c.922G>A (p.Ala308Thr) rs1286829864
NM_005859.5(PURA):c.923C>T (p.Ala308Val)
NM_005859.5(PURA):c.941A>C (p.Gln314Pro) rs1763059029
NM_005859.5(PURA):c.948G>A (p.Glu316=)
NM_005859.5(PURA):c.950A>T (p.Glu317Val) rs1581036746
NM_005859.5(PURA):c.951A>C (p.Glu317Asp)
NM_005859.5(PURA):c.956_964del (p.Gly319_Glu321del) rs2126749514
NM_005859.5(PURA):c.957G>A (p.Gly319=)

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