ClinVar Miner

List of variants studied for Severe combined immunodeficiency disease

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ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NC_000011.10:g.36579767A>G rs2673017 0.02522
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NC_000011.10:g.118342754C>G rs76974878 0.01335
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000733.4(CD3E):c.*98_*101dup rs193922618 0.00450
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_000448.3(RAG1):c.*834dup rs745747958 0.00063
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_000732.6(CD3D):c.450+6C>T rs193922617 0.00013
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) rs104894451 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) rs193922633 0.00004
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645 0.00003
NM_002185.5(IL7R):c.2T>G (p.Met1Arg) rs200076125 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) rs1948391148 0.00001
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.190C>T (p.Leu64=) rs886054280 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000733.4(CD3E):c.70+4del rs193922619 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) rs104894562 0.00001
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
GRCh37/hg19 5q22.1(chr5:110567597-110693274)
NC_000009.11:g.(215030_271626)_(328172_332397)dup
NC_000009.11:g.(215030_271626)_(336719_339005)dup
NC_000009.11:g.(215030_271626)_(399260_404917)dup
NC_000009.11:g.(407070_414781)_(434976_439244)del
NC_000009.11:g.(?_214864)_(215030_271626)del
NC_000009.11:g.(?_214864)_(271730_286460)del
NC_000009.11:g.(?_214864)_(399260_404917)del
NC_000011.9:g.(118215194_118219741)_(118224498_?)del
NC_000019.10:g.17824778_17824779del rs10580414
NC_000019.10:g.17824778_17824779insCA rs10672762
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.466C>A (p.Arg156Ser)
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000022.4(ADA):c.996_997del (p.Ser333fs) rs2123508053
NM_000073.3(CD3G):c.-62GCTG[4] rs60810919
NM_000073.3(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000073.3(CD3G):c.213dup (p.Trp72fs) rs570768621
NM_000073.3(CD3G):c.484-1G>A
NM_000215.4(JAK3):c.*1353dup rs886054269
NM_000215.4(JAK3):c.*1931del rs147498283
NM_000215.4(JAK3):c.*222CT[1] rs3212801
NM_000215.4(JAK3):c.*340dup rs886054276
NM_000215.4(JAK3):c.*841_*842dup rs34803277
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp) rs1274345651
NM_000215.4(JAK3):c.1442-2A>G
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.1915-11G>A
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
NM_000448.3(RAG1):c.*2705dup rs4151048
NM_000448.3(RAG1):c.*2936TAAG[1] rs199555129
NM_000448.3(RAG1):c.*3122del rs141384582
NM_000448.3(RAG1):c.*386del rs886048258
NM_000448.3(RAG1):c.*856C>A rs886048261
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000536.4(RAG2):c.*72T>C rs886048269
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000732.6(CD3D):c.-37G>T rs886047738
NM_000732.6(CD3D):c.107del (p.Asn36fs)
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
NM_000733.4(CD3E):c.567+65_567+66del rs386134229
NM_001017915.3(INPP5D):c.1437+2T>C
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.161+2T>G
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001079.4(ZAP70):c.-81T>G rs200416837
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) rs1573261820
NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)
NM_001391963.1(VDAC2):c.587A>G (p.Asn196Ser)
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
NM_001556.3(IKBKB):c.2205+2T>C rs2130736002
NM_001625.4(AK2):c.330+1G>C rs1639559794
NM_001625.4(AK2):c.498_499dup (p.Ile167fs) rs1638975235
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs) rs1398317449
NM_001625.4(AK2):c.523C>G (p.Arg175Gly) rs1375379850
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter) rs1638959411
NM_002185.5(IL7R):c.*1902del rs33994244
NM_002185.5(IL7R):c.*266dup rs202167692
NM_002185.5(IL7R):c.*334AAAG[4] rs397691511
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002185.5(IL7R):c.437_438del (p.Phe146fs) rs1561423197
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645
NM_002185.5(IL7R):c.707-2A>G rs1561424886
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
NM_002185.5(IL7R):c.83-18A>G rs193922646
NM_002838.5(PTPRC):c.100+1del rs1665977328
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter) rs920392170
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)
NM_005956.4(MTHFD1):c.2529del (p.Glu844fs) rs2140987866
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
NM_006282.5(STK4):c.831+2T>C
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs) rs2144484602
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs) rs2151063606
NM_015599.3(PGM3):c.-2-185C>T rs565900346
NM_015599.3(PGM3):c.114_118del (p.Met39fs)
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
NM_015599.3(PGM3):c.1539+2T>C rs1786839596
NM_015599.3(PGM3):c.162del (p.Lys54fs)
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter) rs1670398017
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_032590.5(KDM2B):c.3305G>C (p.Trp1102Ser)
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)

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