ClinVar Miner

List of variants in gene PURA studied for Inborn genetic diseases

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Total variants: 48
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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.40G>C (p.Ala14Pro) rs1046152089 0.00024
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.186C>T (p.Ala62=) rs963675770 0.00001
NM_005859.5(PURA):c.480G>A (p.Lys160=) rs759194196 0.00001
NM_005859.5(PURA):c.537C>T (p.Gly179=) rs370545019 0.00001
NM_005859.5(PURA):c.597T>C (p.Arg199=) rs762183564 0.00001
NM_005859.5(PURA):c.101del (p.Gly34fs) rs1763036977
NM_005859.5(PURA):c.105T>C (p.Gly35=) rs1282359377
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del) rs761730239
NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del) rs751351711
NM_005859.5(PURA):c.127_130del (p.Ser43fs) rs1763038687
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.153del (p.Leu54fs) rs1554129039
NM_005859.5(PURA):c.168C>T (p.His56=)
NM_005859.5(PURA):c.208A>C (p.Asn70His)
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) rs793888531
NM_005859.5(PURA):c.450C>G (p.Arg150=) rs201822080
NM_005859.5(PURA):c.450C>T (p.Arg150=) rs201822080
NM_005859.5(PURA):c.458G>C (p.Arg153Pro) rs886039610
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup) rs1763047232
NM_005859.5(PURA):c.465C>T (p.Tyr155=) rs374074637
NM_005859.5(PURA):c.472G>T (p.Asp158Tyr) rs797044866
NM_005859.5(PURA):c.475C>G (p.Leu159Val) rs1763048369
NM_005859.5(PURA):c.495C>T (p.Gly165=) rs1455936459
NM_005859.5(PURA):c.506G>C (p.Arg169Pro) rs1554129099
NM_005859.5(PURA):c.531G>C (p.Gly177=) rs746119626
NM_005859.5(PURA):c.531del (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.533dup (p.Gly179fs) rs1763049893
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) rs1064795165
NM_005859.5(PURA):c.583_602del (p.Leu195fs)
NM_005859.5(PURA):c.584T>A (p.Leu195His) rs1763051158
NM_005859.5(PURA):c.641_645dup (p.Ala216fs) rs1763052510
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter) rs1763053171
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.692T>C (p.Phe231Ser) rs1554129113
NM_005859.5(PURA):c.73G>A (p.Gly25Ser) rs1561792992
NM_005859.5(PURA):c.7_11del (p.Asp3fs) rs1554128999
NM_005859.5(PURA):c.82T>C (p.Ser28Pro) rs1554129019
NM_005859.5(PURA):c.927_940del (p.Thr310fs) rs797044944

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