ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 515
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396 0.00029
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 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_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
NM_000136.3(FANCC):c.521+1G>A rs145394391 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_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 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_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 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_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter) rs759511516 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp) rs1346436537 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) rs753419933 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) rs758728749 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NC_000009.12:g.35658024_35658041dup rs1554651453 0.00001
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_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) rs1948391148 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000178.4(GSS):c.709C>T (p.Arg237Ter) rs201925123 0.00001
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005 0.00001
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) rs746715353 0.00001
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly) rs144725473 0.00001
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) rs369098773 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) rs754079962 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp) rs769075304 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_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter) rs1157287613 0.00001
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT rs1563908212 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
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.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000009.11:g.(?_214864)_(215030_271626)del
NC_000009.12:g.35658016_35658043dup
NC_000009.12:g.35658018_35658040dup rs1554651376
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658020_35658043dup rs1823632816
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658037dup rs1823637565
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658032dup rs1563907946
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658029_35658036dup rs1230629953
NC_000009.12:g.35658032_35658038dup
NC_000009.12:g.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NC_000011.9:g.(118215194_118219741)_(118224498_?)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
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_000051.3(ATM):c.8419delG rs2137023331
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.829del (p.Glu277fs)
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs) rs2147424879
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.233del (p.Gln78fs) rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+2T>A rs1555978777
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.895-2A>G rs193922132
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
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_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.427-3C>G rs2040847223
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000178.3(GSS):c.1113_1132del20 rs2147120336
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del) rs770455024
NM_000178.4(GSS):c.1192dup (p.Met398fs)
NM_000178.4(GSS):c.809A>G (p.Tyr270Cys)
NM_000204.5(CFI):c.658+1G>A
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter) rs2092262517
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs) rs2092261347
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter) rs1057517747
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
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.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_000243.3(MEFV):c.1506_1507dup (p.Ser503fs) rs751375381
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) rs483352888
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln) rs1555634422
NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.269C>G (p.Pro90Arg)
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
NM_000271.5(NPC1):c.3243_3755-94del
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs) rs2145351244
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) rs768299417
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala) rs1194990534
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
NM_000271.5(NPC1):c.464-2A>C rs2145485704
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.955+1G>A
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000433.4(NCF2):c.1438del (p.Glu480fs) rs2102875639
NM_000433.4(NCF2):c.417del (p.Ala140fs)
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
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_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs) rs2138212278
NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
NM_000543.5(SMPD1):c.1462A>G (p.Thr488Ala)
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs) rs281860676
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1716C>G (p.Phe572Leu)
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val) rs2134024349
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser) rs2134010914
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000629.3(IFNAR1):c.1356del (p.Phe452fs)
NM_000631.5(NCF4):c.33-1G>A rs2145702588
NM_000631.5(NCF4):c.471-1G>A
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.859-2A>G
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) rs1573261820
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)
NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg) rs2132475562
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1A>G (p.Met1Val) rs1848222357
NM_001083116.3(PRF1):c.985dup (p.Val329fs) rs1848171715
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) rs386134238
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs) rs1943525176
NM_001164277.2(SLC37A4):c.148+2T>A
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter) rs781857990
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter) rs2134635160
NM_001164277.2(SLC37A4):c.872-2A>C rs920196110
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
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_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
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_002435.3(MPI):c.199dup (p.Ser67fs)
NM_002435.3(MPI):c.497_498del (p.Glu166fs) rs2141200280
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002838.5(PTPRC):c.100+1del rs1665977328
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_003764.4(STX11):c.822del (p.Cys275fs)
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
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_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
NM_006282.5(STK4):c.831+2T>C
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs) rs2144484602
NM_006929.5(SKIC2):c.1065-2A>G
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
NM_006929.5(SKIC2):c.1637del (p.Gly546fs) rs1772636752
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter) rs200271795
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
NM_006949.4(STXBP2):c.247-2A>C rs921624651
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs) rs2151063606
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014639.4(SKIC3):c.1134+1G>T rs2112344385
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
NM_014639.4(SKIC3):c.2114+2T>A
NM_014639.4(SKIC3):c.2114+5G>A
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs) rs2112260281
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
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_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter) rs1670398017
NM_020661.4(AICDA):c.332C>A (p.Ala111Glu)
NM_020964.3(EPG5):c.4475-1G>A
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_031229.4(RBCK1):c.582+1G>A rs1017046170
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.3147del (p.Asn1050fs) rs1048876742
NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT rs751921616
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):r.-25_-7dupTACTACTCTGTGAAGCTGA rs1554651455
NR_003051.4(RMRP):n.213C>G rs192060920

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