ClinVar Miner

List of variants reported as likely pathogenic for Severe combined immunodeficiency disease

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Total variants: 80
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HGVS dbSNP gnomAD frequency
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_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
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_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 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_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) rs1948391148 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 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
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_000011.9:g.(118215194_118219741)_(118224498_?)del
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_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.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.1915-11G>A
NM_000215.4(JAK3):c.2143G>A (p.Val715Ile) rs1057520020
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
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.109C>G (p.Arg37Gly) rs1573261820
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.271_280dup (p.Ile94fs) rs193922640
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.788T>A (p.Leu263Ter)
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.1539+2T>C rs1786839596
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter) rs1670398017

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