ClinVar Miner

List of variants in gene PURA reported by GeneDx

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005859.5(PURA):c.321C>T (p.Ala107=) rs149139260 0.00187
NM_005859.5(PURA):c.621C>T (p.Asp207=) rs142688247 0.00014
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.27G>A (p.Glu9=) rs1481319515 0.00003
NM_005859.5(PURA):c.127A>G (p.Ser43Gly) rs1335796595 0.00002
NM_005859.5(PURA):c.138C>T (p.Gly46=) rs1453834303 0.00002
NM_005859.5(PURA):c.110G>C (p.Gly37Ala) rs1430796646 0.00001
NM_005859.5(PURA):c.*20CA[8] rs574050232
NM_005859.5(PURA):c.*8G>A
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del) rs761730239
NM_005859.5(PURA):c.116dup (p.Gly40fs) rs886041754
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.127_141del (p.Ser43_Gly47del) rs1412581529
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.137del (p.Gly46fs) rs1554129023
NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs) rs1554129000
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.15_16del (p.Asp5fs) rs2126748513
NM_005859.5(PURA):c.163C>T (p.Gln55Ter) rs1085307472
NM_005859.5(PURA):c.168C>G (p.His56Gln)
NM_005859.5(PURA):c.169G>C (p.Glu57Gln) rs2126748783
NM_005859.5(PURA):c.171_172dup (p.Thr58fs) rs2126748787
NM_005859.5(PURA):c.173_174insT (p.Gln59fs) rs1064795465
NM_005859.5(PURA):c.1A>G (p.Met1Val) rs793888530
NM_005859.5(PURA):c.202A>G (p.Ile68Val) rs1064795621
NM_005859.5(PURA):c.205C>T (p.Gln69Ter) rs1554129045
NM_005859.5(PURA):c.211A>G (p.Lys71Glu) rs2126748823
NM_005859.5(PURA):c.214C>A (p.Arg72Ser)
NM_005859.5(PURA):c.224T>C (p.Leu75Pro) rs1554129049
NM_005859.5(PURA):c.248del (p.Gly83fs) rs1064796409
NM_005859.5(PURA):c.263T>C (p.Ile88Thr) rs1554129050
NM_005859.5(PURA):c.264del (p.Ile88fs) rs1064793761
NM_005859.5(PURA):c.267del (p.Glu90fs) rs1064793665
NM_005859.5(PURA):c.268G>A (p.Glu90Lys) rs1763043164
NM_005859.5(PURA):c.281del (p.Gly94fs) rs1581036262
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del) rs793888533
NM_005859.5(PURA):c.305T>G (p.Leu102Arg) rs793888531
NM_005859.5(PURA):c.307_308dup (p.Met104fs) rs587782992
NM_005859.5(PURA):c.325G>T (p.Glu109Ter) rs1554129064
NM_005859.5(PURA):c.34G>T (p.Gly12Cys) rs2126748529
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter) rs587782996
NM_005859.5(PURA):c.38del (p.Ala13fs) rs1581036001
NM_005859.5(PURA):c.41C>T (p.Ala14Val)
NM_005859.5(PURA):c.42_57del (p.Leu15fs) rs886041894
NM_005859.5(PURA):c.450C>G (p.Arg150=) rs201822080
NM_005859.5(PURA):c.451G>T (p.Glu151Ter) rs1554129089
NM_005859.5(PURA):c.458G>A (p.Arg153His)
NM_005859.5(PURA):c.458G>C (p.Arg153Pro) rs886039610
NM_005859.5(PURA):c.45_60dup (p.Leu21fs) rs1581036015
NM_005859.5(PURA):c.469A>G (p.Met157Val) rs2126749113
NM_005859.5(PURA):c.478A>C (p.Lys160Gln)
NM_005859.5(PURA):c.478A>G (p.Lys160Glu) rs2126749118
NM_005859.5(PURA):c.486C>G (p.Asn162Lys) rs1085307826
NM_005859.5(PURA):c.487C>T (p.Gln163Ter) rs1554129091
NM_005859.5(PURA):c.494G>A (p.Gly165Asp) rs2126749144
NM_005859.5(PURA):c.496C>A (p.Arg166Ser) rs1554129096
NM_005859.5(PURA):c.4_8del (p.Ala2fs) rs793888537
NM_005859.5(PURA):c.528G>C (p.Arg176=) rs778994348
NM_005859.5(PURA):c.534_555dup (p.Gln186fs) rs1581036474
NM_005859.5(PURA):c.53dup (p.Gly19fs) rs1581036040
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) rs1064795165
NM_005859.5(PURA):c.595C>T (p.Arg199Cys) rs1763051347
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.608C>T (p.Ala203Val) rs2126749271
NM_005859.5(PURA):c.616_618del (p.Ile206del) rs1064795428
NM_005859.5(PURA):c.625T>G (p.Tyr209Asp)
NM_005859.5(PURA):c.658G>A (p.Glu220Lys)
NM_005859.5(PURA):c.66dup (p.His23fs) rs1581036051
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.685A>T (p.Lys229Ter) rs1057524637
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.692T>G (p.Phe231Cys) rs1554129113
NM_005859.5(PURA):c.704T>G (p.Val235Gly) rs1057524051
NM_005859.5(PURA):c.70C>G (p.Pro24Ala) rs1064795164
NM_005859.5(PURA):c.711dup (p.Asn238fs) rs886042017
NM_005859.5(PURA):c.733C>T (p.Arg245Ter) rs1554129116
NM_005859.5(PURA):c.745del (p.Glu248_Val249insTer) rs793888539
NM_005859.5(PURA):c.779C>T (p.Pro260Leu) rs1064795567
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4]) rs763926656
NM_005859.5(PURA):c.793G>A (p.Ala265Thr)
NM_005859.5(PURA):c.802G>T (p.Gly268Ter) rs2126749415
NM_005859.5(PURA):c.808_809del (p.Thr270fs) rs886041600
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005859.5(PURA):c.898C>T (p.Gln300Ter)

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