ClinVar Miner

List of variants studied for B cell deficiency by Genome-Nilou Lab

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_001322934.2(NFKB2):c.1821A>G (p.Ala607=) rs4919634 0.99720
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_001322934.2(NFKB2):c.1269A>G (p.Pro423=) rs4919633 0.98899
NM_003998.4(NFKB1):c.1143T>C (p.Ala381=) rs1609993 0.94257
NM_203447.4(DOCK8):c.2605+30T>C rs10758420 0.93542
NM_001322934.2(NFKB2):c.662-11C>T rs4919632 0.92540
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_203447.4(DOCK8):c.5961+133A>G rs10121936 0.83292
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_013314.4(BLNK):c.48-52T>A rs2168732 0.81631
NM_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_006846.4(SPINK5):c.2313+48G>A rs9325074 0.79044
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_006060.6(IKZF1):c.161-8198A>G rs10899750 0.76615
NM_021803.4(IL21):c.234C>T (p.Cys78=) rs4833837 0.76501
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_001282933.2(ZNF341):c.2505T>C (p.Ala835=) rs2626551 0.74572
NM_006846.4(SPINK5):c.82-31A>G rs1423001 0.74351
NM_182972.3(IRF2BP2):c.232T>C (p.Ser78Pro) rs7545855 0.74265
NM_203447.4(DOCK8):c.5356-48C>T rs10974467 0.71940
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_203447.4(DOCK8):c.4627-85T>C rs1329377 0.68824
NM_203447.4(DOCK8):c.894+74_894+75insC rs3831138 0.67848
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_203447.4(DOCK8):c.895-84G>C rs2296825 0.63039
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=) rs3750319 0.60629
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_013314.4(BLNK):c.361+71G>A rs11188669 0.58528
NM_203447.4(DOCK8):c.4241+22T>C rs10217719 0.57971
NM_203447.4(DOCK8):c.5223+65G>C rs10758598 0.57714
NM_012092.4(ICOS):c.587-26T>G rs10172036 0.57656
NM_003200.5(TCF3):c.72+42T>C rs1860661 0.56456
NM_006846.4(SPINK5):c.2241-26T>C rs3764926 0.56233
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_203447.4(DOCK8):c.2206-48A>G rs7020921 0.53910
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_006846.4(SPINK5):c.882+45_882+46insT rs76839946 0.51324
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_006846.4(SPINK5):c.882+20A>G rs11958432 0.45982
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1302+19G>A rs2303068 0.44163
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1093-26C>T rs2303061 0.44132
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_203447.4(DOCK8):c.4154-68T>A rs2297081 0.43281
NM_001006658.3(CR2):c.1776G>A (p.Leu592=) rs1048971 0.42495
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_203447.4(DOCK8):c.895-65T>G rs2296826 0.36072
NM_012452.3(TNFRSF13B):c.445+25A>C rs2274892 0.35819
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_005026.5(PIK3CD):c.2348-30C>T rs11589267 0.33011
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30786
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_182972.3(IRF2BP2):c.828G>T (p.Ala276=) rs4636 0.30211
NM_012092.4(ICOS):c.*2A>C rs10183087 0.29378
NM_181523.3(PIK3R1):c.428-21G>A rs171649 0.28654
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=) rs3750320 0.24050
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484 0.22663
NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg) rs2228044 0.21678
NM_203447.4(DOCK8):c.1423-100G>A rs12340920 0.21365
NM_003200.5(TCF3):c.145+133G>A rs2302419 0.18839
NM_000061.3(BTK):c.776+78G>A rs2855259 0.16810
NM_006060.6(IKZF1):c.1002C>A (p.Pro334=) rs61731355 0.16192
NM_001006658.3(CR2):c.-71T>C rs3813946 0.15667
NM_006846.4(SPINK5):c.1693-32C>T rs2287769 0.14805
NM_203447.4(DOCK8):c.6068+32G>C rs16909246 0.12477
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_001006658.3(CR2):c.2328T>C (p.Ile776=) rs61735651 0.09124
NM_001006658.3(CR2):c.58+97G>A rs1876453 0.08516
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) rs17618 0.07668
NM_001006658.3(CR2):c.1617C>T (p.Thr539=) rs34349246 0.02179
NM_001006658.3(CR2):c.2649T>C (p.Gly883=) rs1143665 0.02114
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_001006658.3(CR2):c.2352T>C (p.Ile784=) rs142319454 0.00170
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_001006658.3(CR2):c.2844G>A (p.Glu948=) rs61754518 0.00098
NM_001006658.3(CR2):c.2030C>T (p.Thr677Met) rs142648420 0.00056
NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys) rs145499318 0.00042
NM_001006658.3(CR2):c.1152C>T (p.Thr384=) rs145709085 0.00041
NM_001006658.3(CR2):c.3251C>A (p.Ser1084Tyr) rs142273168 0.00041
NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala) rs148388565 0.00036
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu) rs138062179 0.00034
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile) rs61754517 0.00033
NM_001006658.3(CR2):c.1475A>G (p.Asn492Ser) rs142212472 0.00027
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) rs149972318 0.00023
NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr) rs138785170 0.00021
NM_001006658.3(CR2):c.728A>T (p.Asp243Val) rs368883636 0.00017
NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala) rs756904762 0.00010
NM_001006658.3(CR2):c.920C>T (p.Pro307Leu) rs138199106 0.00010
NM_001006658.3(CR2):c.419C>T (p.Pro140Leu) rs563764676 0.00008
NM_001006658.3(CR2):c.249A>C (p.Glu83Asp) rs749360324 0.00007
NM_001006658.3(CR2):c.1180A>C (p.Asn394His) rs760698306 0.00006
NM_001006658.3(CR2):c.276T>G (p.Pro92=) rs371546344 0.00006
NM_001006658.3(CR2):c.824T>C (p.Phe275Ser) rs376314088 0.00006
NM_001006658.3(CR2):c.1021C>T (p.Arg341Cys) rs529311780 0.00005
NM_001006658.3(CR2):c.1687G>A (p.Gly563Arg) rs148153783 0.00005
NM_001006658.3(CR2):c.2087T>C (p.Leu696Pro) rs371283468 0.00005
NM_001006658.3(CR2):c.21C>T (p.Leu7=) rs779365020 0.00005
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) rs775594743 0.00005
NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln) rs139617666 0.00004
NM_001006658.3(CR2):c.2144C>T (p.Pro715Leu) rs751072066 0.00004
NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg) rs768521188 0.00004
NM_001006658.3(CR2):c.376G>A (p.Gly126Arg) rs200595124 0.00004
NM_001006658.3(CR2):c.2156-16A>C rs777216094 0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001006658.3(CR2):c.3211C>A (p.Gln1071Lys) rs369363360 0.00003
NM_001006658.3(CR2):c.621C>T (p.Pro207=) rs573346582 0.00003
NM_001006658.3(CR2):c.80C>T (p.Pro27Leu) rs150906379 0.00003
NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg) rs777919823 0.00002
NM_001006658.3(CR2):c.1468G>C (p.Asp490His) rs143872741 0.00002
NM_001006658.3(CR2):c.2132G>A (p.Ser711Asn) rs1240549356 0.00002
NM_001006658.3(CR2):c.250T>C (p.Tyr84His) rs1336533629 0.00002
NM_001006658.3(CR2):c.2586T>A (p.His862Gln) rs776844477 0.00002
NM_001006658.3(CR2):c.485A>G (p.Asn162Ser) rs190990627 0.00002
NM_001006658.3(CR2):c.697C>T (p.Arg233Trp) rs755984980 0.00002
NM_001006658.3(CR2):c.1927C>T (p.Arg643Cys) rs1472639999 0.00001
NM_001006658.3(CR2):c.2147G>A (p.Arg716Gln) rs368683590 0.00001
NM_001006658.3(CR2):c.565C>T (p.Leu189Phe) rs1357178966 0.00001
NM_001006658.3(CR2):c.752C>T (p.Pro251Leu) rs769307763 0.00001
NM_001006658.3(CR2):c.830C>T (p.Pro277Leu) rs201791442 0.00001
NM_000061.3(BTK):c.1631+71C>T rs2071223
NM_001006658.3(CR2):c.1104A>T (p.Arg368=) rs1572954261
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn) rs775501900
NM_001006658.3(CR2):c.2561A>G (p.His854Arg) rs780966840
NM_001006658.3(CR2):c.2873C>A (p.Thr958Asn)
NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys) rs1658485394
NM_001006658.3(CR2):c.2990C>T (p.Thr997Ile) rs760387989
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001006658.3(CR2):c.67T>C (p.Cys23Arg)
NM_001006658.3(CR2):c.982G>C (p.Asp328His) rs1658214194
NM_001250.6(CD40):c.647-3dup rs749590513
NM_001770.6(CD19):c.705G>T (p.Pro235=) rs35979293
NM_003998.4(NFKB1):c.1210+16T>C rs4648050
NM_003998.4(NFKB1):c.2593-22C>G rs3817685
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1431-39del rs34473560
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1821-47T>G rs72660259
NM_006846.4(SPINK5):c.2313+31C>G rs9325073
NM_012092.4(ICOS):c.501+6C>T rs4264550
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_203447.4(DOCK8):c.5080-143G>C rs10733508
NM_203447.4(DOCK8):c.5223+79A>C rs10217568
NM_203447.4(DOCK8):c.5490+21C>T rs1887958
NM_203447.4(DOCK8):c.5581-18G>C rs10814952
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

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