ClinVar Miner

List of variants reported as benign for immune system disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1881C>T (p.Asp627=) rs6866352 0.99985
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_000581.4(GPX1):c.599C>T (p.Pro200Leu) rs1050450 0.30347
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000073.3(CD3G):c.390T>C (p.Ala130=) rs3753059 0.16289
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_002834.5(PTPN11):c.-273G>A rs58805176 0.10884
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_002661.5(PLCG2):c.3482-3C>T rs74856898 0.00935
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001282933.2(ZNF341):c.366G>A (p.Pro122=) rs75946243 0.00643
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671 0.00483
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_001282933.2(ZNF341):c.553C>T (p.Pro185Ser) rs45577437 0.00260
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_000243.3(MEFV):c.37C>G (p.Leu13Val) rs139448379 0.00090
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_001291303.3(FAT4):c.2919C>T (p.Val973=) rs144356360 0.00083
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00082
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=) rs8178235 0.00078
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_004946.3(DOCK2):c.264A>G (p.Ala88=) rs201493926 0.00020
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_001085487.3(MYSM1):c.2031+8A>G rs201679870 0.00012
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=) rs183128734 0.00006
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) rs71469175
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000562.3(C8A):c.107C>A (p.Ala36Glu) rs116201358
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001366385.1(CARD14):c.2219+14T>G rs8069255
NM_002838.5(PTPRC):c.2848-4del rs57296163
NM_002838.5(PTPRC):c.2848-5_2848-4del rs57296163
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005263.5(GFI1):c.925-40CT[21] rs35896485
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_032193.4(RNASEH2C):c.*948dup rs142614068
NM_139276.3(STAT3):c.1601-10dup rs3830585

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