ClinVar Miner

List of variants reported as not provided for immune system disorder by GeneReviews

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.1926= (p.Met642=) rs1788799 0.26043
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744 0.00253
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 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_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
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_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 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_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs) rs869025585 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) rs148559256 0.00002
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser) rs1413244355 0.00001
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) rs869025224 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) rs199840952 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006949.4(STXBP2):c.193C>T (p.Arg65Trp) rs758188545 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) rs137853973 0.00001
NM_024598.4(USB1):c.673C>T (p.Gln225Ter) rs1459714680 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_199242.3(UNC13D):c.117+143A>G rs931794659 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.754-1G>C rs753990040 0.00001
NC_000006.12:g.144176889_144196079del
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000081.2(LYST):c.7060_7066delCTATTAG rs80338661
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10395del (p.Gly3466fs) rs80338670
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2454del (p.Ala819fs) rs80338648
NM_000081.4(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs) rs80338650
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3434dup (p.His1145fs)
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter) rs80338654
NM_000081.4(LYST):c.4274del (p.Leu1425fs) rs80338656
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp) rs80338655
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter) rs80338658
NM_000081.4(LYST):c.5317del (p.Arg1773fs) rs80338659
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter) rs80338660
NM_000081.4(LYST):c.7555del (p.Tyr2519fs) rs80338662
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys) rs80338663
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter) rs80338664
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer) rs80338666
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) rs104894515
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) rs747342458
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys) rs797044799
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000639.3(FASLG):c.203dup (p.Pro69fs) rs2101806549
NM_000639.3(FASLG):c.263del (p.Phe88fs) rs587776450
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) rs80358236
NM_000639.3(FASLG):c.605G>C (p.Cys202Ser) rs2101810634
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) rs1561183139
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=) rs201207626
NM_001079.4(ZAP70):c.1624-11G>A rs730880318
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu) rs113994175
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln) rs113994172
NM_001079.4(ZAP70):c.838-80G>A rs113994173
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs) rs318240736
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) rs28931611
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004364.5(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) rs2145264004
NM_004364.5(CEBPA):c.158del (p.Gly53fs) rs2145264074
NM_004364.5(CEBPA):c.189del (p.Asp63fs) rs2145263853
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) rs2145263088
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) rs2145258913
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs) rs77672568
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs) rs78705193
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1503+1G>T rs515726142
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_024598.4(USB1):c.176_177del (p.Gly59fs) rs759761915
NM_024598.4(USB1):c.179del (p.Pro60fs) rs786205051
NM_024598.4(USB1):c.232C>T (p.Arg78Ter) rs374559185
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter) rs199820065
NM_024598.4(USB1):c.265+2T>G rs1555497680
NM_024598.4(USB1):c.266-1G>A rs1555498092
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) rs771096742
NM_024598.4(USB1):c.334dup (p.Arg112fs) rs1555498117
NM_024598.4(USB1):c.415C>T (p.Gln139Ter) rs1555498129
NM_024598.4(USB1):c.450-2A>G rs1555498396
NM_024598.4(USB1):c.489_492del (p.Asn163fs) rs777667891
NM_024598.4(USB1):c.499del (p.Thr167fs) rs1555498399
NM_024598.4(USB1):c.502A>G (p.Arg168Gly) rs137853971
NM_024598.4(USB1):c.504-2A>C rs137853970
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) rs1555498563
NM_024598.4(USB1):c.531del (p.His179fs) rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter) rs1555498573
NM_024598.4(USB1):c.609+1G>A rs1555498581
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.683_693+1del rs137853972
NM_024598.4(USB1):c.693+1G>T rs1292827495
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_080424.4(SP110):c.319_325dup (p.Ser109fs) rs397515569
NM_080424.4(SP110):c.373del (p.Thr125fs) rs397515570
NM_080424.4(SP110):c.40del (p.Gln14fs) rs397515362
NM_080424.4(SP110):c.642del (p.Ser215fs) rs397515361
NM_080424.4(SP110):c.667+1dup rs397515571
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) rs797044567
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_199242.3(UNC13D):c.118-307G>A rs1019391145

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