ClinVar Miner

List of variants studied for immune system disorder by Genome Diagnostics Laboratory, The Hospital for Sick Children

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_001243133.2(NLRP3):c.*230G>C rs10754558 0.63911
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_030787.4(CFHR5):c.-20T>C rs9427662 0.19169
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_004621.6(TRPC6):c.-254C>G rs3824934 0.08690
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02697
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_172351.3(CD46):c.1083-10C>T rs41317997 0.02234
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000204.5(CFI):c.884-7T>C rs140555685 0.01504
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) rs145744152 0.00846
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552 0.00745
NM_000361.3(THBD):c.1092G>A (p.Glu364=) rs73901577 0.00611
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_172351.3(CD46):c.453C>T (p.Ser151=) rs145041158 0.00408
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_172351.3(CD46):c.38C>T (p.Ser13Phe) rs138843816 0.00262
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala) rs140313679 0.00156
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr) rs138834145 0.00009
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000064.4(C3):c.28C>A (p.Leu10Met) rs756577495 0.00001
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) rs777904423 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000204.5(CFI):c.377T>C (p.Ile126Thr) rs778891732 0.00001
NM_001710.6(CFB):c.507C>T (p.Gly169=) rs990116233 0.00001
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1269+4C>A
NM_000064.4(C3):c.1962C>T (p.Thr654=)
NM_000064.4(C3):c.2485TTC[1] (p.Phe830del)
NM_000064.4(C3):c.268-4C>T
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.522G>A (p.Pro174=)
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
NM_000186.4(CFH):c.47del (p.Cys16fs)
NM_000204.5(CFI):c.11T>A (p.Leu4His)
NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)
NM_000204.5(CFI):c.329-8del
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000204.5(CFI):c.482+6C>T rs79375065
NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)
NM_000361.3(THBD):c.563C>G (p.Ala188Gly)
NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)
NM_001710.6(CFB):c.978A>G (p.Glu326=)
NM_001710.6(CFB):c.981A>T (p.Ala327=)
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.999G>A (p.Ala333=)
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)
NM_005666.4(CFHR2):c.213G>A (p.Thr71=)
NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr)
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)
NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)
NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)
NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)
NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)
NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile) rs147488267
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_172351.3(CD46):c.191G>T (p.Cys64Phe) rs1655633353
NM_172351.3(CD46):c.83del (p.Leu28fs)

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