ClinVar Miner

List of variants reported as likely benign 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: 82
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HGVS dbSNP
NM_005859.5(PURA):c.105T>C (p.Gly35=) rs1282359377
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_141del (p.Ser43_Gly47del) rs1412581529
NM_005859.5(PURA):c.127_141dup (p.Ser43_Gly47dup)
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.165G>A (p.Gln55=)
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.270G>A (p.Glu90=) rs774603280
NM_005859.5(PURA):c.279G>A (p.Ala93=) rs376139846
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=)
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.369G>A (p.Gln123=) rs1331583399
NM_005859.5(PURA):c.375C>G (p.Gly125=) rs1213597146
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.399C>G (p.Ala133=) rs1581036351
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.450C>T (p.Arg150=)
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.480G>A (p.Lys160=) rs759194196
NM_005859.5(PURA):c.495C>G (p.Gly165=) rs1455936459
NM_005859.5(PURA):c.498C>G (p.Arg166=)
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.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.564T>C (p.Ile188=) rs1581036495
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.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.615C>T (p.Leu205=) rs1581036542
NM_005859.5(PURA):c.618C>T (p.Ile206=) rs372391881
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.63G>T (p.Leu21=)
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.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.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.741C>T (p.Ser247=)
NM_005859.5(PURA):c.759T>C (p.Tyr253=) rs1581036642
NM_005859.5(PURA):c.777G>A (p.Val259=)
NM_005859.5(PURA):c.777G>C (p.Val259=) rs146964273
NM_005859.5(PURA):c.789G>C (p.Val263=) rs1581036664
NM_005859.5(PURA):c.804A>C (p.Gly268=) rs1581036671
NM_005859.5(PURA):c.804A>G (p.Gly268=)
NM_005859.5(PURA):c.918C>G (p.Thr306=)
NM_005859.5(PURA):c.918C>T (p.Thr306=)
NM_005859.5(PURA):c.920C>T (p.Ala307Val) rs1554129135

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