ClinVar Miner

List of variants in gene RAG2 reported as pathogenic

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592 0.00001
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) rs1479440369 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val) rs1851106893 0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.859del (p.Cys287fs) rs754975137 0.00001
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu) rs1224542443 0.00001
NC_000011.9:g.(?_36614125)_(36615728_?)del
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter) rs2494791063
NM_000536.4(RAG2):c.102del (p.Gly35fs) rs746734641
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer) rs1851062418
NM_000536.4(RAG2):c.1053dup (p.Glu352Ter) rs2133312509
NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs) rs2494788285
NM_000536.4(RAG2):c.1131del (p.Phe378fs) rs2494790291
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer) rs750849852
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter) rs2494789497
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp) rs1434109608
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs) rs1470797202
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile) rs773710101
NM_000536.4(RAG2):c.1334dup (p.Tyr445Ter) rs2494788127
NM_000536.4(RAG2):c.1348del (p.Asp450fs) rs2494787994
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1357T>C (p.Trp453Arg)
NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.1403_1406del (p.His468fs) rs786205616
NM_000536.4(RAG2):c.1441C>G (p.His481Asp) rs762054841
NM_000536.4(RAG2):c.1442A>G (p.His481Arg) rs1564995465
NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer) rs2494786655
NM_000536.4(RAG2):c.171del (p.Lys58fs) rs2494799242
NM_000536.4(RAG2):c.189dup (p.Lys64Ter) rs2494799074
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.1A>G (p.Met1Val) rs1564997814
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.243del (p.Gly82fs) rs1851098227
NM_000536.4(RAG2):c.272_278del (p.Tyr91fs) rs2494798134
NM_000536.4(RAG2):c.293del (p.Thr98fs) rs1851096223
NM_000536.4(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.4(RAG2):c.358del (p.Val120fs) rs1342428152
NM_000536.4(RAG2):c.361_364del (p.Thr121fs) rs2494797251
NM_000536.4(RAG2):c.3G>A (p.Met1Ile) rs2494801025
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter) rs756694972
NM_000536.4(RAG2):c.47_57del (p.Gln16fs) rs2133316487
NM_000536.4(RAG2):c.535del (p.Leu179fs) rs2133314424
NM_000536.4(RAG2):c.539C>A (p.Pro180His) rs1064793251
NM_000536.4(RAG2):c.548dup (p.Leu184fs) rs2494795418
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) rs1590715754
NM_000536.4(RAG2):c.638dup (p.Asn213fs) rs1851080959
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000536.4(RAG2):c.724del (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.743del (p.Asn248fs) rs2133313716
NM_000536.4(RAG2):c.770_771del (p.Ser257fs) rs2133313582
NM_000536.4(RAG2):c.817_819del (p.Ile273del) rs2133313409
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser) rs1851074701
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896
NM_000536.4(RAG2):c.863del (p.Asn288fs) rs755941834
NM_000536.4(RAG2):c.895del (p.Ile299fs) rs2133313100
NM_000536.4(RAG2):c.921G>A (p.Trp307Ter)
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter) rs2494791806
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys) rs2494791806
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.984del (p.Gly330fs) rs2494791448

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