ClinVar Miner

List of variants studied for agammaglobulinemia 4, autosomal recessive

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_013314.4(BLNK):c.48-52T>A rs2168732 0.81631
NM_013314.4(BLNK):c.361+71G>A rs11188669 0.58528
NM_013314.4(BLNK):c.1096-11A>T rs74151283 0.05315
NM_013314.4(BLNK):c.48G>A (p.Arg16=) rs11540858 0.03732
NM_013314.4(BLNK):c.195C>T (p.Ser65=) rs12261820 0.01993
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_013314.4(BLNK):c.270G>A (p.Glu90=) rs17111469 0.00302
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr) rs144903484 0.00175
NM_013314.4(BLNK):c.132T>A (p.Pro44=) rs147203646 0.00125
NM_013314.4(BLNK):c.923T>C (p.Ile308Thr) rs144266674 0.00084
NM_013314.4(BLNK):c.88G>C (p.Gly30Arg) rs143109144 0.00077
NM_013314.4(BLNK):c.177C>T (p.Asp59=) rs140266229 0.00064
NM_013314.4(BLNK):c.759G>A (p.Thr253=) rs80188740 0.00058
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys) rs148249957 0.00056
NM_013314.4(BLNK):c.957A>C (p.Pro319=) rs149590334 0.00043
NM_013314.4(BLNK):c.1021G>A (p.Val341Ile) rs144826995 0.00041
NM_013314.4(BLNK):c.1096-16A>T rs80026049 0.00035
NM_013314.4(BLNK):c.607+15C>T rs202084402 0.00029
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu) rs191065660 0.00029
NM_013314.4(BLNK):c.205-15C>T rs199854336 0.00027
NM_013314.4(BLNK):c.115C>T (p.Leu39=) rs34135972 0.00026
NM_013314.4(BLNK):c.628A>G (p.Thr210Ala) rs587687663 0.00025
NM_013314.4(BLNK):c.525+13T>C rs368519346 0.00024
NM_013314.4(BLNK):c.558T>C (p.Asp186=) rs145614752 0.00014
NM_013314.4(BLNK):c.315C>A (p.Thr105=) rs782804653 0.00013
NM_013314.4(BLNK):c.652G>A (p.Ala218Thr) rs375608442 0.00011
NM_013314.4(BLNK):c.34A>T (p.Ser12Cys) rs201052118 0.00010
NM_013314.4(BLNK):c.45G>C (p.Leu15Phe) rs138255946 0.00009
NM_013314.4(BLNK):c.273C>A (p.Asn91Lys) rs200794859 0.00008
NM_013314.4(BLNK):c.519G>A (p.Glu173=) rs587660551 0.00008
NM_013314.4(BLNK):c.276T>C (p.Ala92=) rs782580711 0.00007
NM_013314.4(BLNK):c.320C>T (p.Pro107Leu) rs375364894 0.00007
NM_013314.4(BLNK):c.1252-4C>T rs372130465 0.00006
NM_013314.4(BLNK):c.25G>A (p.Val9Ile) rs200630912 0.00006
NM_013314.4(BLNK):c.596C>G (p.Pro199Arg) rs781980711 0.00006
NM_013314.4(BLNK):c.775-4A>G rs368162830 0.00006
NM_013314.4(BLNK):c.206A>G (p.Asp69Gly) rs199765600 0.00005
NM_013314.4(BLNK):c.24C>T (p.Thr8=) rs377038501 0.00005
NM_013314.4(BLNK):c.294G>A (p.Pro98=) rs199560219 0.00005
NM_013314.4(BLNK):c.552T>C (p.Asp184=) rs151100328 0.00005
NM_013314.4(BLNK):c.744C>T (p.Ala248=) rs147455437 0.00005
NM_013314.4(BLNK):c.113+9G>A rs782219800 0.00004
NM_013314.4(BLNK):c.288C>T (p.Tyr96=) rs782558431 0.00004
NM_013314.4(BLNK):c.527C>T (p.Ala176Val) rs782568875 0.00004
NM_013314.4(BLNK):c.932C>T (p.Pro311Leu) rs773027640 0.00004
NM_013314.4(BLNK):c.935-3C>T rs201642415 0.00004
NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln) rs267602649 0.00003
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp) rs201576692 0.00003
NM_013314.4(BLNK):c.321G>A (p.Pro107=) rs782386441 0.00003
NM_013314.4(BLNK):c.677-6G>A rs369791208 0.00003
NM_013314.4(BLNK):c.747-12T>C rs782566336 0.00003
NM_013314.4(BLNK):c.902+9C>G rs782684052 0.00003
NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser) rs782110816 0.00002
NM_013314.4(BLNK):c.108C>A (p.Ile36=) rs782258239 0.00002
NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu) rs782205113 0.00002
NM_013314.4(BLNK):c.1287T>C (p.His429=) rs202240472 0.00002
NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn) rs782445849 0.00002
NM_013314.4(BLNK):c.138T>C (p.Ser46=) rs1554906562 0.00002
NM_013314.4(BLNK):c.156C>T (p.Tyr52=) rs782546596 0.00002
NM_013314.4(BLNK):c.234C>T (p.His78=) rs782468809 0.00002
NM_013314.4(BLNK):c.293C>T (p.Pro98Leu) rs201683834 0.00002
NM_013314.4(BLNK):c.30C>T (p.Pro10=) rs539394141 0.00002
NM_013314.4(BLNK):c.465C>T (p.Ala155=) rs782033733 0.00002
NM_013314.4(BLNK):c.52C>T (p.Leu18Phe) rs577163183 0.00002
NM_013314.4(BLNK):c.540C>T (p.Val180=) rs781885345 0.00002
NM_013314.4(BLNK):c.544G>A (p.Val182Met) rs141021727 0.00002
NM_013314.4(BLNK):c.651C>T (p.Pro217=) rs377748729 0.00002
NM_013314.4(BLNK):c.680G>A (p.Arg227Gln) rs782554120 0.00002
NM_013314.4(BLNK):c.807T>G (p.Ser269Arg) rs374762276 0.00002
NM_013314.4(BLNK):c.829C>T (p.Pro277Ser) rs782411291 0.00002
NM_013314.4(BLNK):c.845G>A (p.Arg282Gln) rs782231780 0.00002
NM_013314.4(BLNK):c.934+12G>A rs375361757 0.00002
NM_013314.4(BLNK):c.1041T>C (p.Tyr347=) rs587691913 0.00001
NM_013314.4(BLNK):c.1096-17T>A rs199983704 0.00001
NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr) rs895691306 0.00001
NM_013314.4(BLNK):c.113+4A>T rs1554907782 0.00001
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter) rs1554894837 0.00001
NM_013314.4(BLNK):c.1252-17A>G rs781881941 0.00001
NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe) rs782636828 0.00001
NM_013314.4(BLNK):c.157G>A (p.Ala53Thr) rs782259412 0.00001
NM_013314.4(BLNK):c.164-9C>T rs587723501 0.00001
NM_013314.4(BLNK):c.196G>A (p.Asp66Asn) rs1490043216 0.00001
NM_013314.4(BLNK):c.201C>G (p.Asp67Glu) rs782619779 0.00001
NM_013314.4(BLNK):c.205-4G>T rs782580639 0.00001
NM_013314.4(BLNK):c.211G>A (p.Asp71Asn) rs782528456 0.00001
NM_013314.4(BLNK):c.237G>A (p.Ser79=) rs377027662 0.00001
NM_013314.4(BLNK):c.249G>A (p.Met83Ile) rs782796988 0.00001
NM_013314.4(BLNK):c.254T>C (p.Val85Ala) rs587702260 0.00001
NM_013314.4(BLNK):c.265G>A (p.Glu89Lys) rs1006565682 0.00001
NM_013314.4(BLNK):c.274G>A (p.Ala92Thr) rs782493817 0.00001
NM_013314.4(BLNK):c.316A>C (p.Arg106=) rs369391875 0.00001
NM_013314.4(BLNK):c.328C>G (p.Pro110Ala) rs1554902771 0.00001
NM_013314.4(BLNK):c.333C>T (p.Ala111=) rs1842316129 0.00001
NM_013314.4(BLNK):c.335T>C (p.Leu112Pro) rs1434331471 0.00001
NM_013314.4(BLNK):c.361+10C>T rs373205464 0.00001
NM_013314.4(BLNK):c.434A>G (p.Glu145Gly) rs1554901814 0.00001
NM_013314.4(BLNK):c.49C>A (p.Gln17Lys) rs782515867 0.00001
NM_013314.4(BLNK):c.509G>A (p.Gly170Asp) rs1053275132 0.00001
NM_013314.4(BLNK):c.511C>T (p.Leu171Phe) rs782601154 0.00001
NM_013314.4(BLNK):c.517G>A (p.Glu173Lys) rs782436993 0.00001
NM_013314.4(BLNK):c.543C>T (p.Pro181=) rs147302301 0.00001
NM_013314.4(BLNK):c.608-10T>C rs781814871 0.00001
NM_013314.4(BLNK):c.648G>A (p.Thr216=) rs782356586 0.00001
NM_013314.4(BLNK):c.659C>T (p.Pro220Leu) rs1591316040 0.00001
NM_013314.4(BLNK):c.685A>G (p.Ser229Gly) rs782305136 0.00001
NM_013314.4(BLNK):c.69T>C (p.His23=) rs782120526 0.00001
NM_013314.4(BLNK):c.746G>A (p.Gly249Glu) rs782290327 0.00001
NM_013314.4(BLNK):c.747-17C>G rs1176495438 0.00001
NM_013314.4(BLNK):c.817+6A>G rs782459899 0.00001
NM_013314.4(BLNK):c.903-11C>A rs943669594 0.00001
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu) rs1177361907 0.00001
NM_013314.4(BLNK):c.939T>C (p.Phe313=) rs782051821 0.00001
NC_000010.10:g.(?_97366499)_(98031175_?)dup
NC_000010.10:g.(?_97951709)_(98031175_?)dup
NC_000010.10:g.(?_98031089)_(98031175_?)dup
NC_000010.11:g.(?_96271332)_(96271418_?)del
NM_013314.3(BLNK):c.114delG rs1554906579
NM_013314.4(BLNK):c.1011+14T>C
NM_013314.4(BLNK):c.1011+19A>C
NM_013314.4(BLNK):c.1012-11C>T
NM_013314.4(BLNK):c.1012-4A>G
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673
NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly) rs2133946404
NM_013314.4(BLNK):c.1031del (p.Lys344fs) rs2133946382
NM_013314.4(BLNK):c.1096-17del rs201454460
NM_013314.4(BLNK):c.1096-6A>T
NM_013314.4(BLNK):c.1096-9dup
NM_013314.4(BLNK):c.1110T>C (p.Leu370=) rs2133931930
NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp) rs782566012
NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln) rs782570122
NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)
NM_013314.4(BLNK):c.1125T>A (p.Ser375=) rs1591292772
NM_013314.4(BLNK):c.113+10C>T
NM_013314.4(BLNK):c.113+14T>C
NM_013314.4(BLNK):c.113+2T>G rs2134092983
NM_013314.4(BLNK):c.114-11G>T
NM_013314.4(BLNK):c.1173G>A (p.Lys391=)
NM_013314.4(BLNK):c.1195C>A (p.Arg399=)
NM_013314.4(BLNK):c.1230C>A (p.Gly410=) rs1591292563
NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala) rs1466156518
NM_013314.4(BLNK):c.1251+13T>C
NM_013314.4(BLNK):c.1252-3T>C
NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe) rs2083340048
NM_013314.4(BLNK):c.1281G>A (p.Arg427=) rs2083339779
NM_013314.4(BLNK):c.1291C>A (p.His431Asn)
NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)
NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly) rs2133908110
NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)
NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)
NM_013314.4(BLNK):c.1351T>C (p.Tyr451His) rs782547336
NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)
NM_013314.4(BLNK):c.144T>C (p.Pro48=) rs2134080471
NM_013314.4(BLNK):c.159T>C (p.Ala53=)
NM_013314.4(BLNK):c.163+18T>C
NM_013314.4(BLNK):c.164-15C>T
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013314.4(BLNK):c.171_172inv (p.Ala58Thr)
NM_013314.4(BLNK):c.184G>C (p.Glu62Gln)
NM_013314.4(BLNK):c.191G>C (p.Trp64Ser) rs1842471945
NM_013314.4(BLNK):c.198T>A (p.Asp66Glu) rs587721918
NM_013314.4(BLNK):c.203T>C (p.Phe68Ser)
NM_013314.4(BLNK):c.204+10T>A
NM_013314.4(BLNK):c.204+9T>C
NM_013314.4(BLNK):c.208A>G (p.Ser70Gly) rs2134032306
NM_013314.4(BLNK):c.210C>G (p.Ser70Arg) rs138625467
NM_013314.4(BLNK):c.210C>T (p.Ser70=) rs138625467
NM_013314.4(BLNK):c.230A>G (p.Glu77Gly) rs2134032203
NM_013314.4(BLNK):c.248T>C (p.Met83Thr)
NM_013314.4(BLNK):c.24C>A (p.Thr8=) rs377038501
NM_013314.4(BLNK):c.252C>T (p.Tyr84=)
NM_013314.4(BLNK):c.253G>A (p.Val85Met)
NM_013314.4(BLNK):c.255G>A (p.Val85=) rs1842320560
NM_013314.4(BLNK):c.255G>C (p.Val85=) rs1842320560
NM_013314.4(BLNK):c.262G>T (p.Ala88Ser)
NM_013314.4(BLNK):c.264C>G (p.Ala88=) rs374291940
NM_013314.4(BLNK):c.26del (p.Val9fs)
NM_013314.4(BLNK):c.284G>A (p.Ser95Asn) rs1842318615
NM_013314.4(BLNK):c.292C>G (p.Pro98Ala)
NM_013314.4(BLNK):c.302T>C (p.Val101Ala) rs2134031807
NM_013314.4(BLNK):c.315C>G (p.Thr105=)
NM_013314.4(BLNK):c.315C>T (p.Thr105=) rs782804653
NM_013314.4(BLNK):c.334C>T (p.Leu112=)
NM_013314.4(BLNK):c.339C>A (p.Pro113=)
NM_013314.4(BLNK):c.342C>T (p.Phe114=)
NM_013314.4(BLNK):c.351C>T (p.Gly117=)
NM_013314.4(BLNK):c.361+15A>G rs2134031482
NM_013314.4(BLNK):c.361+8C>T
NM_013314.4(BLNK):c.361+9C>G
NM_013314.4(BLNK):c.368G>T (p.Arg123Leu) rs781854815
NM_013314.4(BLNK):c.377A>G (p.Gln126Arg) rs1313837045
NM_013314.4(BLNK):c.395T>G (p.Phe132Cys) rs2134020915
NM_013314.4(BLNK):c.419C>T (p.Pro140Leu) rs2134020896
NM_013314.4(BLNK):c.456C>T (p.Thr152=)
NM_013314.4(BLNK):c.460C>G (p.Pro154Ala) rs2084259658
NM_013314.4(BLNK):c.463G>T (p.Ala155Ser) rs201861123
NM_013314.4(BLNK):c.47+3A>T rs2134166251
NM_013314.4(BLNK):c.479A>G (p.Gln160Arg) rs781989662
NM_013314.4(BLNK):c.48-13T>G
NM_013314.4(BLNK):c.48-18T>A
NM_013314.4(BLNK):c.48-5T>C rs2134093205
NM_013314.4(BLNK):c.48-5dup
NM_013314.4(BLNK):c.48-9T>A
NM_013314.4(BLNK):c.48-9T>C
NM_013314.4(BLNK):c.484C>T (p.Pro162Ser)
NM_013314.4(BLNK):c.521A>T (p.Asp174Val)
NM_013314.4(BLNK):c.525+10_525+11insG
NM_013314.4(BLNK):c.526-13G>A
NM_013314.4(BLNK):c.526-22_526-19del rs774986411
NM_013314.4(BLNK):c.526-5G>A
NM_013314.4(BLNK):c.526-6T>G rs1591317634
NM_013314.4(BLNK):c.526-7C>T
NM_013314.4(BLNK):c.526-8T>A
NM_013314.4(BLNK):c.571C>A (p.His191Asn) rs2134002149
NM_013314.4(BLNK):c.585C>T (p.Ser195=) rs2134002109
NM_013314.4(BLNK):c.596C>T (p.Pro199Leu) rs781980711
NM_013314.4(BLNK):c.5A>T (p.Asp2Val)
NM_013314.4(BLNK):c.607+13C>T
NM_013314.4(BLNK):c.607+14G>A
NM_013314.4(BLNK):c.607+5G>C rs782348426
NM_013314.4(BLNK):c.608-15_608-14insCG
NM_013314.4(BLNK):c.608-16C>T
NM_013314.4(BLNK):c.608-22CA[5] rs200821324
NM_013314.4(BLNK):c.608-7G>A rs2084041337
NM_013314.4(BLNK):c.611C>A (p.Pro204His) rs2084041054
NM_013314.4(BLNK):c.612C>T (p.Pro204=)
NM_013314.4(BLNK):c.616G>A (p.Val206Met) rs1297812434
NM_013314.4(BLNK):c.616_618del (p.Val206del)
NM_013314.4(BLNK):c.646A>G (p.Thr216Ala) rs1307642715
NM_013314.4(BLNK):c.647C>T (p.Thr216Met)
NM_013314.4(BLNK):c.656C>G (p.Ser219Cys)
NM_013314.4(BLNK):c.676+9T>C
NM_013314.4(BLNK):c.677-12A>G
NM_013314.4(BLNK):c.677-15T>G
NM_013314.4(BLNK):c.677-16G>A
NM_013314.4(BLNK):c.677-3C>T rs2133983445
NM_013314.4(BLNK):c.718G>A (p.Ala240Thr)
NM_013314.4(BLNK):c.719C>T (p.Ala240Val)
NM_013314.4(BLNK):c.71A>G (p.Asp24Gly) rs1554907802
NM_013314.4(BLNK):c.720T>G (p.Ala240=)
NM_013314.4(BLNK):c.726A>G (p.Pro242=) rs2133983317
NM_013314.4(BLNK):c.732G>C (p.Pro244=) rs782456480
NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)
NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)
NM_013314.4(BLNK):c.746+1G>A rs2083906060
NM_013314.4(BLNK):c.746+8C>G
NM_013314.4(BLNK):c.747-2A>G
NM_013314.4(BLNK):c.758C>T (p.Thr253Met)
NM_013314.4(BLNK):c.762A>G (p.Thr254=)
NM_013314.4(BLNK):c.775-12del
NM_013314.4(BLNK):c.775-18T>G
NM_013314.4(BLNK):c.775-3T>C
NM_013314.4(BLNK):c.780A>G (p.Pro260=) rs1554897574
NM_013314.4(BLNK):c.812G>A (p.Cys271Tyr) rs782250398
NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)
NM_013314.4(BLNK):c.817+16T>C
NM_013314.4(BLNK):c.817+3dup rs1301850552
NM_013314.4(BLNK):c.818-12T>A
NM_013314.4(BLNK):c.81C>T (p.Asn27=)
NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)
NM_013314.4(BLNK):c.839G>A (p.Arg280His)
NM_013314.4(BLNK):c.858C>T (p.His286=) rs2133965694
NM_013314.4(BLNK):c.869C>T (p.Ala290Val)
NM_013314.4(BLNK):c.873G>T (p.Val291=) rs2083745776
NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)
NM_013314.4(BLNK):c.893C>T (p.Pro298Leu)
NM_013314.4(BLNK):c.896C>T (p.Ala299Val)
NM_013314.4(BLNK):c.902+15C>G
NM_013314.4(BLNK):c.903-10T>C rs2083731898
NM_013314.4(BLNK):c.903-19C>T
NM_013314.4(BLNK):c.903-7C>T
NM_013314.4(BLNK):c.903A>G (p.Lys301=)
NM_013314.4(BLNK):c.926C>A (p.Pro309His) rs1177361907
NM_013314.4(BLNK):c.934+11C>A
NM_013314.4(BLNK):c.934+8C>T
NM_013314.4(BLNK):c.948G>A (p.Gly316=)
NM_013314.4(BLNK):c.970C>T (p.Pro324Ser) rs2083618670
NM_013314.4(BLNK):c.987A>G (p.Ser329=)
NM_013314.4(BLNK):c.999T>C (p.Thr333=)

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