ClinVar Miner

List of variants studied 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: 190
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HGVS dbSNP
NC_000005.10:g.(?_140114162)_(140115170_?)del
NC_000005.9:g.(?_136633338)_(140998481_?)dup
NM_005859.5(PURA):c.-12_25del (p.Met1fs)
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.105T>C (p.Gly35=) rs1282359377
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.10C>T (p.Arg4Ter) rs1561792945
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.119del (p.Gly40fs) rs1581036115
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup) rs1039658835
NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del) rs750397204
NM_005859.5(PURA):c.126_146dup (p.Ser43_Gly49dup) rs750397204
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.127_141del (p.Ser43_Gly47del) rs1412581529
NM_005859.5(PURA):c.127_141dup (p.Ser43_Gly47dup)
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.132CGG[4] (p.Gly49del)
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup) rs754074166
NM_005859.5(PURA):c.132CGG[7] (p.Gly48_Gly49dup) rs754074166
NM_005859.5(PURA):c.141C>T (p.Gly47=) rs769972776
NM_005859.5(PURA):c.144del (p.Ala50fs)
NM_005859.5(PURA):c.146G>T (p.Gly49Val) rs773489265
NM_005859.5(PURA):c.148del (p.Ala50fs)
NM_005859.5(PURA):c.149_156dup (p.Gly53fs) rs1581036164
NM_005859.5(PURA):c.155G>A (p.Gly52Glu)
NM_005859.5(PURA):c.155G>T (p.Gly52Val)
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.163C>T (p.Gln55Ter) rs1085307472
NM_005859.5(PURA):c.165G>A (p.Gln55=)
NM_005859.5(PURA):c.175C>T (p.Gln59Ter) rs1561793115
NM_005859.5(PURA):c.178G>T (p.Glu60Ter)
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.228C>T (p.Asp76=)
NM_005859.5(PURA):c.231G>T (p.Val77=)
NM_005859.5(PURA):c.240C>T (p.Asn80=) rs367658456
NM_005859.5(PURA):c.255C>T (p.Phe85=)
NM_005859.5(PURA):c.267C>T (p.Ala89=)
NM_005859.5(PURA):c.268G>C (p.Glu90Gln)
NM_005859.5(PURA):c.270G>A (p.Glu90=) rs774603280
NM_005859.5(PURA):c.278C>T (p.Ala93Val)
NM_005859.5(PURA):c.279G>A (p.Ala93=) rs376139846
NM_005859.5(PURA):c.289A>G (p.Lys97Glu) rs587782994
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del)
NM_005859.5(PURA):c.299T>C (p.Leu100Pro) rs587782995
NM_005859.5(PURA):c.300T>G (p.Leu100=) rs1581036279
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del) rs793888533
NM_005859.5(PURA):c.303T>G (p.Thr101=) rs1581036288
NM_005859.5(PURA):c.306C>T (p.Leu102=)
NM_005859.5(PURA):c.307_308del (p.Ser103fs) rs587782992
NM_005859.5(PURA):c.312del (p.Met104fs) rs1581036297
NM_005859.5(PURA):c.315A>G (p.Ser105=) rs766101072
NM_005859.5(PURA):c.321C>G (p.Ala107=) rs149139260
NM_005859.5(PURA):c.321C>T (p.Ala107=) rs149139260
NM_005859.5(PURA):c.334G>C (p.Asp112His)
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter) rs1581036318
NM_005859.5(PURA):c.366_367dup (p.Gln123fs) rs1554129069
NM_005859.5(PURA):c.369G>A (p.Gln123=) rs1331583399
NM_005859.5(PURA):c.375C>G (p.Gly125=) rs1213597146
NM_005859.5(PURA):c.382dup (p.Gln128fs) rs1561793211
NM_005859.5(PURA):c.383_386dup (p.Pro130fs)
NM_005859.5(PURA):c.385C>T (p.Pro129Ser)
NM_005859.5(PURA):c.387G>A (p.Pro129=) rs777864550
NM_005859.5(PURA):c.387G>C (p.Pro129=) rs777864550
NM_005859.5(PURA):c.390G>A (p.Pro130=) rs771038985
NM_005859.5(PURA):c.390G>C (p.Pro130=) rs771038985
NM_005859.5(PURA):c.394C>G (p.Leu132Val) rs746218892
NM_005859.5(PURA):c.399C>G (p.Ala133=) rs1581036351
NM_005859.5(PURA):c.407_420dup (p.Ala142fs) rs1561793219
NM_005859.5(PURA):c.40G>C (p.Ala14Pro) rs1046152089
NM_005859.5(PURA):c.426G>A (p.Ala142=) rs1581036389
NM_005859.5(PURA):c.42G>A (p.Ala14=) rs1350220385
NM_005859.5(PURA):c.430A>G (p.Lys144Glu) rs1581036396
NM_005859.5(PURA):c.432A>G (p.Lys144=) rs1554129086
NM_005859.5(PURA):c.43C>A (p.Leu15Met) rs923665124
NM_005859.5(PURA):c.449_456del (p.Arg150fs) rs1581036405
NM_005859.5(PURA):c.450C>G (p.Arg150=) rs201822080
NM_005859.5(PURA):c.450C>T (p.Arg150=)
NM_005859.5(PURA):c.459dup (p.Lys154fs)
NM_005859.5(PURA):c.462G>A (p.Lys154=)
NM_005859.5(PURA):c.465C>T (p.Tyr155=)
NM_005859.5(PURA):c.477C>G (p.Leu159=) rs1453429129
NM_005859.5(PURA):c.478_480del (p.Lys160del)
NM_005859.5(PURA):c.480G>A (p.Lys160=) rs759194196
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.494_497dup (p.Phe167fs) rs1561793268
NM_005859.5(PURA):c.495C>G (p.Gly165=) rs1455936459
NM_005859.5(PURA):c.496C>T (p.Arg166Cys) rs1554129096
NM_005859.5(PURA):c.498C>G (p.Arg166=)
NM_005859.5(PURA):c.502dup (p.Leu168fs)
NM_005859.5(PURA):c.503T>C (p.Leu168Pro) rs1581036449
NM_005859.5(PURA):c.50del (p.Ser17fs) rs1554129008
NM_005859.5(PURA):c.511C>G (p.Arg171Gly) rs1554129100
NM_005859.5(PURA):c.517A>G (p.Thr173Ala)
NM_005859.5(PURA):c.518C>A (p.Thr173Lys)
NM_005859.5(PURA):c.519G>C (p.Thr173=) rs764069152
NM_005859.5(PURA):c.51G>C (p.Ser17=)
NM_005859.5(PURA):c.51G>T (p.Ser17=)
NM_005859.5(PURA):c.528G>C (p.Arg176=) rs778994348
NM_005859.5(PURA):c.531G>C (p.Gly177=) rs746119626
NM_005859.5(PURA):c.534T>G (p.Pro178=) rs1176291675
NM_005859.5(PURA):c.534_556dup (p.Gln186fs)
NM_005859.5(PURA):c.537C>G (p.Gly179=) rs370545019
NM_005859.5(PURA):c.537C>T (p.Gly179=)
NM_005859.5(PURA):c.543C>A (p.Gly181=)
NM_005859.5(PURA):c.543C>T (p.Gly181=) rs555886273
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.564T>C (p.Ile188=) rs1581036495
NM_005859.5(PURA):c.565G>C (p.Ala189Pro) rs1581036496
NM_005859.5(PURA):c.573C>G (p.Pro191=) rs925159576
NM_005859.5(PURA):c.576G>T (p.Ala192=)
NM_005859.5(PURA):c.582G>C (p.Gly194=) rs886603107
NM_005859.5(PURA):c.582G>T (p.Gly194=) rs886603107
NM_005859.5(PURA):c.585C>G (p.Leu195=) rs1581036515
NM_005859.5(PURA):c.58T>C (p.Ser20Pro)
NM_005859.5(PURA):c.595C>T (p.Arg199Cys)
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.597T>C (p.Arg199=) rs762183564
NM_005859.5(PURA):c.603T>C (p.Ala201=)
NM_005859.5(PURA):c.603T>G (p.Ala201=) rs1276094504
NM_005859.5(PURA):c.605T>C (p.Leu202Pro) rs1561793336
NM_005859.5(PURA):c.614T>C (p.Leu205Pro) rs1581036537
NM_005859.5(PURA):c.615C>T (p.Leu205=) rs1581036542
NM_005859.5(PURA):c.616A>T (p.Ile206Phe) rs786204834
NM_005859.5(PURA):c.618C>T (p.Ile206=) rs372391881
NM_005859.5(PURA):c.619_625del (p.Asp207fs) rs1561793344
NM_005859.5(PURA):c.621C>T (p.Asp207=) rs142688247
NM_005859.5(PURA):c.630A>C (p.Gly210=) rs910622748
NM_005859.5(PURA):c.634G>C (p.Glu212Gln) rs1561793355
NM_005859.5(PURA):c.638A>T (p.Glu213Val)
NM_005859.5(PURA):c.63G>T (p.Leu21=)
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) rs1581036558
NM_005859.5(PURA):c.647_660del (p.Ala216fs)
NM_005859.5(PURA):c.648C>T (p.Ala216=)
NM_005859.5(PURA):c.657C>T (p.Pro219=)
NM_005859.5(PURA):c.669C>T (p.Ser223=)
NM_005859.5(PURA):c.674C>T (p.Thr225Ile)
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.693C>T (p.Phe231=)
NM_005859.5(PURA):c.696C>T (p.Phe232=) rs773542859
NM_005859.5(PURA):c.702T>C (p.Asp234=) rs1581036605
NM_005859.5(PURA):c.703del (p.Val235fs)
NM_005859.5(PURA):c.70C>T (p.Pro24Ser)
NM_005859.5(PURA):c.710C>T (p.Ser237Phe) rs886039899
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)
NM_005859.5(PURA):c.725dup (p.Phe243fs) rs1554129114
NM_005859.5(PURA):c.726G>C (p.Val242=) rs1581036621
NM_005859.5(PURA):c.726_727del (p.Phe243fs) rs786204833
NM_005859.5(PURA):c.729T>C (p.Phe243=) rs1292888333
NM_005859.5(PURA):c.734G>C (p.Arg245Pro) rs1554129118
NM_005859.5(PURA):c.735A>G (p.Arg245=) rs1581036630
NM_005859.5(PURA):c.741C>T (p.Ser247=)
NM_005859.5(PURA):c.759T>C (p.Tyr253=) rs1581036642
NM_005859.5(PURA):c.769A>G (p.Ile257Val)
NM_005859.5(PURA):c.777G>A (p.Val259=)
NM_005859.5(PURA):c.777G>C (p.Val259=) rs146964273
NM_005859.5(PURA):c.779C>G (p.Pro260Arg)
NM_005859.5(PURA):c.779C>T (p.Pro260Leu) rs1064795567
NM_005859.5(PURA):c.77C>A (p.Ser26Ter)
NM_005859.5(PURA):c.787_789del (p.Val263del) rs1581036663
NM_005859.5(PURA):c.789G>C (p.Val263=) rs1581036664
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4]) rs763926656
NM_005859.5(PURA):c.804A>C (p.Gly268=) rs1581036671
NM_005859.5(PURA):c.804A>G (p.Gly268=)
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
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.918C>G (p.Thr306=)
NM_005859.5(PURA):c.918C>T (p.Thr306=)
NM_005859.5(PURA):c.919G>A (p.Ala307Thr) rs751843411
NM_005859.5(PURA):c.920C>T (p.Ala307Val) rs1554129135
NM_005859.5(PURA):c.922G>A (p.Ala308Thr) rs1286829864
NM_005859.5(PURA):c.925G>C (p.Ala309Pro)
NM_005859.5(PURA):c.93del (p.Gly33fs)
NM_005859.5(PURA):c.941A>C (p.Gln314Pro)
NM_005859.5(PURA):c.950A>T (p.Glu317Val) rs1581036746

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