ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_005859.5(PURA):c.618C>T (p.Ile206=) rs372391881 0.00015
NM_005859.5(PURA):c.621C>T (p.Asp207=) rs142688247 0.00014
NM_005859.5(PURA):c.123C>T (p.Gly41=) rs1395188527 0.00012
NM_005859.5(PURA):c.240C>T (p.Asn80=) rs367658456 0.00011
NM_005859.5(PURA):c.543C>T (p.Gly181=) rs555886273 0.00010
NM_005859.5(PURA):c.146G>T (p.Gly49Val) rs773489265 0.00006
NM_005859.5(PURA):c.141C>T (p.Gly47=) rs769972776 0.00004
NM_005859.5(PURA):c.600C>T (p.Asp200=) rs770487634 0.00004
NM_005859.5(PURA):c.696C>T (p.Phe232=) rs773542859 0.00004
NM_005859.5(PURA):c.27G>A (p.Glu9=) rs1481319515 0.00003
NM_005859.5(PURA):c.387G>A (p.Pro129=) rs777864550 0.00003
NM_005859.5(PURA):c.390G>A (p.Pro130=) rs771038985 0.00003
NM_005859.5(PURA):c.138C>T (p.Gly46=) rs1453834303 0.00002
NM_005859.5(PURA):c.502C>T (p.Leu168=) rs1305961737 0.00002
NM_005859.5(PURA):c.723C>T (p.Gly241=) rs747372214 0.00002
NM_005859.5(PURA):c.110G>C (p.Gly37Ala) rs1430796646 0.00001
NM_005859.5(PURA):c.165G>A (p.Gln55=) rs764979877 0.00001
NM_005859.5(PURA):c.186C>T (p.Ala62=) rs963675770 0.00001
NM_005859.5(PURA):c.210C>T (p.Asn70=) rs373688524 0.00001
NM_005859.5(PURA):c.270G>A (p.Glu90=) rs774603280 0.00001
NM_005859.5(PURA):c.279G>A (p.Ala93=) rs376139846 0.00001
NM_005859.5(PURA):c.315A>G (p.Ser105=) rs766101072 0.00001
NM_005859.5(PURA):c.360C>T (p.His120=) rs1346256251 0.00001
NM_005859.5(PURA):c.421C>A (p.Arg141=) rs1413692088 0.00001
NM_005859.5(PURA):c.462G>A (p.Lys154=) rs762590553 0.00001
NM_005859.5(PURA):c.477C>G (p.Leu159=) rs1453429129 0.00001
NM_005859.5(PURA):c.480G>A (p.Lys160=) rs759194196 0.00001
NM_005859.5(PURA):c.492C>T (p.Arg164=) rs375962530 0.00001
NM_005859.5(PURA):c.525C>T (p.Asn175=) rs757427646 0.00001
NM_005859.5(PURA):c.537C>T (p.Gly179=) rs370545019 0.00001
NM_005859.5(PURA):c.549G>A (p.Thr183=) rs769252578 0.00001
NM_005859.5(PURA):c.576G>T (p.Ala192=) rs748792707 0.00001
NM_005859.5(PURA):c.582G>T (p.Gly194=) rs886603107 0.00001
NM_005859.5(PURA):c.597T>C (p.Arg199=) rs762183564 0.00001
NM_005859.5(PURA):c.627C>T (p.Tyr209=) rs760506481 0.00001
NM_005859.5(PURA):c.63G>T (p.Leu21=) rs935069923 0.00001
NM_005859.5(PURA):c.657C>T (p.Pro219=) rs1182298839 0.00001
NM_005859.5(PURA):c.68A>G (p.His23Arg) rs1319701255 0.00001
NM_005859.5(PURA):c.693C>T (p.Phe231=) rs750557574 0.00001
NM_005859.5(PURA):c.741C>T (p.Ser247=) rs748693062 0.00001
NM_005859.5(PURA):c.925G>C (p.Ala309Pro) rs1273916819 0.00001
NM_005859.5(PURA):c.100G>A (p.Gly34Ser) rs1763036938
NM_005859.5(PURA):c.102T>C (p.Gly34=) rs1446546980
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del) rs1053480508
NM_005859.5(PURA):c.102_119dup (p.Gly37_Gly42dup) rs1184201512
NM_005859.5(PURA):c.105T>C (p.Gly35=) rs1282359377
NM_005859.5(PURA):c.105_122dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
NM_005859.5(PURA):c.105_131del (p.Gly41_Gly49del) rs1433370088
NM_005859.5(PURA):c.108C>G (p.Gly36=) rs1763037598
NM_005859.5(PURA):c.112G>A (p.Gly38Arg)
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del) rs761730239
NM_005859.5(PURA):c.114_134del (p.Ser43_Gly49del)
NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del) rs751351711
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del) rs1271325628
NM_005859.5(PURA):c.115GGC[1] (p.Gly40_Gly42del)
NM_005859.5(PURA):c.115GGC[5] (p.Gly42_Ser43insGly)
NM_005859.5(PURA):c.115GGC[6] (p.Gly42_Ser43insGlyGly)
NM_005859.5(PURA):c.117C>T (p.Gly39=)
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_146del (p.Ser43_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_141del (p.Ser43_Gly47del) rs1412581529
NM_005859.5(PURA):c.127_141dup (p.Ser43_Gly47dup) rs1412581529
NM_005859.5(PURA):c.127_144del (p.Ser43_Gly48del) rs891979402
NM_005859.5(PURA):c.132CGG[2] (p.Gly47_Gly49del) rs754074166
NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del) rs754074166
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del) rs754074166
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.132CGG[8] (p.Gly49_Ala50insGlyGlyGly)
NM_005859.5(PURA):c.147G>C (p.Gly49=)
NM_005859.5(PURA):c.160C>T (p.Leu54=)
NM_005859.5(PURA):c.168C>T (p.His56=)
NM_005859.5(PURA):c.201C>T (p.Asp67=)
NM_005859.5(PURA):c.207G>A (p.Gln69=)
NM_005859.5(PURA):c.228C>T (p.Asp76=) rs1436569103
NM_005859.5(PURA):c.231G>T (p.Val77=) rs2126748841
NM_005859.5(PURA):c.234G>A (p.Lys78=)
NM_005859.5(PURA):c.255C>T (p.Phe85=) rs1763042675
NM_005859.5(PURA):c.267C>G (p.Ala89=) rs149010278
NM_005859.5(PURA):c.267C>T (p.Ala89=) rs149010278
NM_005859.5(PURA):c.268G>C (p.Glu90Gln) rs1763043164
NM_005859.5(PURA):c.276C>T (p.Gly92=)
NM_005859.5(PURA):c.282C>G (p.Gly94=)
NM_005859.5(PURA):c.297C>T (p.Arg99=)
NM_005859.5(PURA):c.29A>T (p.Gln10Leu)
NM_005859.5(PURA):c.300T>G (p.Leu100=) rs1581036279
NM_005859.5(PURA):c.303T>G (p.Thr101=) rs1581036288
NM_005859.5(PURA):c.306C>T (p.Leu102=) rs762714935
NM_005859.5(PURA):c.321C>G (p.Ala107=) rs149139260
NM_005859.5(PURA):c.334G>C (p.Asp112His) rs1763044679
NM_005859.5(PURA):c.348C>T (p.Asp116=)
NM_005859.5(PURA):c.351C>T (p.Phe117=)
NM_005859.5(PURA):c.354C>A (p.Ile118=)
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.387G>C (p.Pro129=) rs777864550
NM_005859.5(PURA):c.390G>C (p.Pro130=) rs771038985
NM_005859.5(PURA):c.399C>G (p.Ala133=) rs1581036351
NM_005859.5(PURA):c.39G>A (p.Ala13=)
NM_005859.5(PURA):c.39G>C (p.Ala13=)
NM_005859.5(PURA):c.423G>A (p.Arg141=) rs1160252551
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.432A>G (p.Lys144=) rs1554129086
NM_005859.5(PURA):c.444G>A (p.Leu148=) rs2126749091
NM_005859.5(PURA):c.450C>T (p.Arg150=) rs201822080
NM_005859.5(PURA):c.465C>T (p.Tyr155=) rs374074637
NM_005859.5(PURA):c.495C>G (p.Gly165=) rs1455936459
NM_005859.5(PURA):c.495C>T (p.Gly165=) rs1455936459
NM_005859.5(PURA):c.498C>G (p.Arg166=) rs752590766
NM_005859.5(PURA):c.50C>T (p.Ser17Leu)
NM_005859.5(PURA):c.513C>T (p.Arg171=)
NM_005859.5(PURA):c.516G>A (p.Gln172=)
NM_005859.5(PURA):c.517A>G (p.Thr173Ala) rs1763049405
NM_005859.5(PURA):c.519G>C (p.Thr173=) rs764069152
NM_005859.5(PURA):c.51G>A (p.Ser17=) rs1345518698
NM_005859.5(PURA):c.51G>C (p.Ser17=) rs1345518698
NM_005859.5(PURA):c.51G>T (p.Ser17=) rs1345518698
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.537C>G (p.Gly179=) rs370545019
NM_005859.5(PURA):c.543C>A (p.Gly181=) rs555886273
NM_005859.5(PURA):c.564T>C (p.Ile188=) rs1581036495
NM_005859.5(PURA):c.573C>G (p.Pro191=) rs925159576
NM_005859.5(PURA):c.582G>C (p.Gly194=) rs886603107
NM_005859.5(PURA):c.585C>G (p.Leu195=) rs1581036515
NM_005859.5(PURA):c.588C>T (p.Ile196=)
NM_005859.5(PURA):c.58T>C (p.Ser20Pro) rs1763035593
NM_005859.5(PURA):c.603T>C (p.Ala201=) rs1276094504
NM_005859.5(PURA):c.603T>G (p.Ala201=) rs1276094504
NM_005859.5(PURA):c.615C>T (p.Leu205=) rs1581036542
NM_005859.5(PURA):c.61C>T (p.Leu21=)
NM_005859.5(PURA):c.630A>C (p.Gly210=) rs910622748
NM_005859.5(PURA):c.648C>T (p.Ala216=) rs764016282
NM_005859.5(PURA):c.654G>T (p.Leu218=)
NM_005859.5(PURA):c.669C>T (p.Ser223=) rs539704026
NM_005859.5(PURA):c.672G>C (p.Leu224Phe) rs1187486679
NM_005859.5(PURA):c.702T>C (p.Asp234=) rs1581036605
NM_005859.5(PURA):c.70C>T (p.Pro24Ser) rs1064795164
NM_005859.5(PURA):c.720C>T (p.Tyr240=)
NM_005859.5(PURA):c.726G>C (p.Val242=) rs1581036621
NM_005859.5(PURA):c.729T>C (p.Phe243=) rs1292888333
NM_005859.5(PURA):c.735A>G (p.Arg245=) rs1581036630
NM_005859.5(PURA):c.759T>C (p.Tyr253=) rs1581036642
NM_005859.5(PURA):c.774C>A (p.Thr258=)
NM_005859.5(PURA):c.777G>A (p.Val259=) rs146964273
NM_005859.5(PURA):c.777G>C (p.Val259=) rs146964273
NM_005859.5(PURA):c.777G>T (p.Val259=)
NM_005859.5(PURA):c.789G>A (p.Val263=)
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=) rs1581036671
NM_005859.5(PURA):c.807C>T (p.His269=)
NM_005859.5(PURA):c.819G>A (p.Lys273=)
NM_005859.5(PURA):c.867G>C (p.Arg289=) rs2126749465
NM_005859.5(PURA):c.888C>T (p.His296=)
NM_005859.5(PURA):c.897A>G (p.Gln299=) rs1763056754
NM_005859.5(PURA):c.898CAG[5] (p.Gln303dup) rs748424666
NM_005859.5(PURA):c.910GAG[1] (p.Glu305del)
NM_005859.5(PURA):c.914A>G (p.Glu305Gly)
NM_005859.5(PURA):c.918C>G (p.Thr306=) rs887978824
NM_005859.5(PURA):c.918C>T (p.Thr306=) rs887978824
NM_005859.5(PURA):c.91G>A (p.Gly31Ser)
NM_005859.5(PURA):c.920C>T (p.Ala307Val) rs1554129135
NM_005859.5(PURA):c.921C>T (p.Ala307=)
NM_005859.5(PURA):c.923C>T (p.Ala308Val)
NM_005859.5(PURA):c.99C>T (p.Gly33=) rs2126748624

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