ClinVar Miner

List of variants in gene BLNK studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
BLNK, IVS1DS, A-T, +3
NC_000010.10:g.(?_97951709)_(98031175_?)dup
NC_000010.10:g.(?_98031089)_(98031175_?)dup
NM_013314.3(BLNK):c.113+4A>T
NM_013314.3(BLNK):c.114delG rs1554906579
NM_013314.3(BLNK):c.178G>A (p.Glu60Lys)
NM_013314.3(BLNK):c.195C>T (p.Ser65=) rs12261820
NM_013314.3(BLNK):c.196G>A (p.Asp66Asn)
NM_013314.3(BLNK):c.254T>C (p.Val85Ala)
NM_013314.3(BLNK):c.262G>A (p.Ala88Thr) rs144903484
NM_013314.3(BLNK):c.270G>A (p.Glu90=) rs17111469
NM_013314.3(BLNK):c.321G>A (p.Pro107=) rs782386441
NM_013314.3(BLNK):c.335T>C (p.Leu112Pro) rs1434331471
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013314.3(BLNK):c.48G>A (p.Arg16=) rs11540858
NM_013314.3(BLNK):c.526-5G>C rs17111459
NM_013314.3(BLNK):c.526-6T>G
NM_013314.3(BLNK):c.596C>G (p.Pro199Arg)
NM_013314.3(BLNK):c.648G>A (p.Thr216=) rs782356586
NM_013314.3(BLNK):c.652G>A (p.Ala218Thr)
NM_013314.3(BLNK):c.659C>T (p.Pro220Leu)
NM_013314.3(BLNK):c.680G>A (p.Arg227Gln)
NM_013314.3(BLNK):c.71A>G (p.Asp24Gly)
NM_013314.3(BLNK):c.780A>G (p.Pro260=) rs1554897574
NM_013314.3(BLNK):c.807T>G (p.Ser269Arg)
NM_013314.3(BLNK):c.88G>C (p.Gly30Arg) rs143109144

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.