List of variants reported as likely benign for Agammaglobulinemia 4, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 133

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)	rs148612299	0.00489
NM_013314.4(BLNK):c.923T>C (p.Ile308Thr)	rs144266674	0.00084
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.957A>C (p.Pro319=)	rs149590334	0.00043
NM_013314.4(BLNK):c.607+15C>T	rs202084402	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.519G>A (p.Glu173=)	rs587660551	0.00008
NM_013314.4(BLNK):c.276T>C (p.Ala92=)	rs782580711	0.00007
NM_013314.4(BLNK):c.1252-4C>T	rs372130465	0.00006
NM_013314.4(BLNK):c.775-4A>G	rs368162830	0.00006
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.113+9G>A	rs782219800	0.00004
NM_013314.4(BLNK):c.288C>T (p.Tyr96=)	rs782558431	0.00004
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.108C>A (p.Ile36=)	rs782258239	0.00002
NM_013314.4(BLNK):c.1287T>C (p.His429=)	rs202240472	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.30C>T (p.Pro10=)	rs539394141	0.00002
NM_013314.4(BLNK):c.465C>T (p.Ala155=)	rs782033733	0.00002
NM_013314.4(BLNK):c.540C>T (p.Val180=)	rs781885345	0.00002
NM_013314.4(BLNK):c.651C>T (p.Pro217=)	rs377748729	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.1252-17A>G	rs781881941	0.00001
NM_013314.4(BLNK):c.205-4G>T	rs782580639	0.00001
NM_013314.4(BLNK):c.237G>A (p.Ser79=)	rs377027662	0.00001
NM_013314.4(BLNK):c.316A>C (p.Arg106=)	rs369391875	0.00001
NM_013314.4(BLNK):c.333C>T (p.Ala111=)	rs1842316129	0.00001
NM_013314.4(BLNK):c.361+10C>T	rs373205464	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.69T>C (p.His23=)	rs782120526	0.00001
NM_013314.4(BLNK):c.747-17C>G	rs1176495438	0.00001
NM_013314.4(BLNK):c.903-11C>A	rs943669594	0.00001
NM_013314.4(BLNK):c.939T>C (p.Phe313=)	rs782051821	0.00001
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.1096-6A>T
NM_013314.4(BLNK):c.1110T>C (p.Leu370=)	rs2133931930
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.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.1251+13T>C
NM_013314.4(BLNK):c.1281G>A (p.Arg427=)	rs2083339779
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.204+10T>A
NM_013314.4(BLNK):c.204+9T>C
NM_013314.4(BLNK):c.210C>T (p.Ser70=)	rs138625467
NM_013314.4(BLNK):c.24C>A (p.Thr8=)	rs377038501
NM_013314.4(BLNK):c.252C>T (p.Tyr84=)
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.264C>G (p.Ala88=)	rs374291940
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.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.456C>T (p.Thr152=)
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.48-9T>A
NM_013314.4(BLNK):c.48-9T>C
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.585C>T (p.Ser195=)	rs2134002109
NM_013314.4(BLNK):c.607+13C>T
NM_013314.4(BLNK):c.607+14G>A
NM_013314.4(BLNK):c.608-15_608-14insCG
NM_013314.4(BLNK):c.608-16C>T
NM_013314.4(BLNK):c.608-7G>A	rs2084041337
NM_013314.4(BLNK):c.612C>T (p.Pro204=)
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.719C>T (p.Ala240Val)
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.746+8C>G
NM_013314.4(BLNK):c.762A>G (p.Thr254=)
NM_013314.4(BLNK):c.775-18T>G
NM_013314.4(BLNK):c.780A>G (p.Pro260=)	rs1554897574
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.858C>T (p.His286=)	rs2133965694
NM_013314.4(BLNK):c.873G>T (p.Val291=)	rs2083745776
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.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.987A>G (p.Ser329=)
NM_013314.4(BLNK):c.999T>C (p.Thr333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.