ClinVar Miner

List of variants reported as 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: 616
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NR_023343.3(RNU4ATAC):n.51G>A rs188343279 0.00038
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) rs104894451 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) rs748082671 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) rs387906808 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 0.00003
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) rs773941375 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) rs758110629 0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
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.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309 0.00001
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) rs120074134 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter) rs370721218 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000271.5(NPC1):c.3591+1G>A rs786200877 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000397.4(CYBB):c.1662dup (p.Glu555Ter) rs1453468510 0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) rs137854508 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_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser) rs776571416 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs) rs782172072 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_020964.3(EPG5):c.4327C>T (p.Gln1443Ter) rs374321183 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys) rs750811263 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NC_000001.10:g.(235914663_235915304)_(235916575_235918777)del
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del
NC_000009.11:g.(332479_334224)_(422136_426884)del
NC_000009.11:g.(?_214864)_(271730_286460)del
NC_000009.11:g.(?_214864)_(399260_404917)del
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000011.9:g.(108129803_108137897)_(108239830_?)del
NC_000011.9:g.(?_22644078)_(22647388_?)del
NC_000013.10:g.(51519669_51522122)_(51523642_51528040)del
NC_000016.9:g.(89806508_89807211)_(89816311_89818545)del
NC_000016.9:g.(89806508_89807211)_(89851373_89857810)del
NC_000016.9:g.(89807275_89809207)_(89851373_89857810)del
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
NC_000016.9:g.(89828431_89831297)_(89851373_89857810)del
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
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.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000022.4(ADA):c.996_997del (p.Ser333fs) rs2123508053
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2023del (p.Gln675fs)
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2441del (p.Asp814fs) rs1565400045
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5177+1G>A rs1131691159
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6808-242_7516-275del
NM_000051.4(ATM):c.681dup (p.Gly228fs) rs1591503359
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7834del (p.Arg2612fs) rs2086411154
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter) rs2088551822
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.280del (p.Ile94fs)
NM_000061.3(BTK):c.310dupG
NM_000061.3(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.347-1G>A rs2076118841
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.58+4_58+7del rs771926427
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) rs878853656
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000178.4(GSS):c.-9+5G>A rs1555889738
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter) rs1556330249
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter) rs1474434210
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1711del (p.Tyr571fs) rs1057517455
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.2129del (p.Gln710fs) rs2058753352
NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3349dup (p.Leu1117fs) rs2145350930
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.984del (p.Pro330fs)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000397.4(CYBB):c.1415del (p.Gly472fs) rs1929563459
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_000397.4(CYBB):c.253-1G>C
NM_000397.4(CYBB):c.302A>G (p.His101Arg) rs137854591
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter) rs180899069
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro) rs193922448
NM_000397.4(CYBB):c.483+1G>T rs1131691828
NM_000397.4(CYBB):c.674+4_674+7del rs1057517730
NM_000397.4(CYBB):c.742dup (p.Ile248fs) rs886041194
NM_000397.4(CYBB):c.80_83del (p.Val27fs) rs1556464554
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter) rs1929432929
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000433.4(NCF2):c.1099C>T (p.Gln367Ter)
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp)
NM_000433.4(NCF2):c.623_624del (p.Val208fs)
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.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.759C>A (p.Asp253Glu) rs752000778
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000732.6(CD3D):c.107del (p.Asn36fs)
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)
NM_001083116.3(PRF1):c.91T>G (p.Cys31Gly) rs1848219856
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.148+1G>T rs1943672400
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter) rs1555191604
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001250.6(CD40):c.170C>T (p.Thr57Met)
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) rs1818665697
NM_001734.5(C1S):c.343del (p.Ser115fs)
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys) rs1569527111
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.224_227del (p.Tyr75fs)
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014140.4(SMARCAL1):c.1940A>C (p.Lys647Thr) rs2106055226
NM_014639.4(SKIC3):c.4102C>T (p.Gln1368Ter)
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
NM_015599.3(PGM3):c.162del (p.Lys54fs)
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
NM_024598.4(USB1):c.266-1G>A rs1555498092
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser) rs78464826
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter)
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)
NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) rs1567713850
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser) rs1057521091
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg) rs1232542382
NM_199242.3(UNC13D):c.708del (p.Asp236fs)
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.799_800del (p.Ser267fs) rs1566366148
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
NR_003051.3(RMRP):n.-13_1dup14 rs1554651373
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863

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