ClinVar Miner

List of variants reported as likely benign for agammaglobulinemia 2, autosomal recessive by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys) rs114766892 0.00155
NM_020070.4(IGLL1):c.420T>C (p.Phe140=) rs1064423 0.00135
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_020070.4(IGLL1):c.336C>T (p.Ala112=) rs140494226 0.00113
NM_020070.4(IGLL1):c.618G>A (p.Thr206=) rs147356355 0.00106
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_020070.4(IGLL1):c.342C>G (p.Pro114=) rs146831457 0.00083
NM_020070.4(IGLL1):c.359C>T (p.Pro120Leu) rs142384414 0.00059
NM_020070.4(IGLL1):c.546G>C (p.Thr182=) rs146592375 0.00041
NM_020070.4(IGLL1):c.594C>T (p.His198=) rs1064418 0.00038
NM_020070.4(IGLL1):c.588C>T (p.Val196=) rs151337964 0.00033
NM_020070.4(IGLL1):c.36C>T (p.Ala12=) rs556803233 0.00019
NM_020070.4(IGLL1):c.111C>G (p.Gly37=) rs780805400 0.00016
NM_020070.4(IGLL1):c.223G>A (p.Gly75Ser) rs201907837 0.00015
NM_020070.4(IGLL1):c.219G>A (p.Gln73=) rs542469985 0.00013
NM_020070.4(IGLL1):c.438G>A (p.Thr146=) rs377678203 0.00011
NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp) rs369768094 0.00009
NM_020070.4(IGLL1):c.363G>A (p.Pro121=) rs146127121 0.00008
NM_020070.4(IGLL1):c.345G>A (p.Ser115=) rs373712072 0.00006
NM_020070.4(IGLL1):c.135G>A (p.Ser45=) rs753138972 0.00005
NM_020070.4(IGLL1):c.234T>G (p.Thr78=) rs148009596 0.00005
NM_020070.4(IGLL1):c.323-7C>T rs750211329 0.00004
NM_020070.4(IGLL1):c.360G>A (p.Pro120=) rs184173813 0.00004
NM_020070.4(IGLL1):c.606C>T (p.Thr202=) rs776330273 0.00004
NM_020070.4(IGLL1):c.327G>A (p.Gln109=) rs376293773 0.00003
NM_020070.4(IGLL1):c.495C>T (p.Pro165=) rs374132554 0.00002
NM_020070.4(IGLL1):c.258G>A (p.Gly86=) rs756305081 0.00001
NM_020070.4(IGLL1):c.285G>A (p.Thr95=) rs753649042 0.00001
NM_020070.4(IGLL1):c.322+9C>T rs1262115754 0.00001
NM_020070.4(IGLL1):c.323-18C>G rs748268331 0.00001
NM_020070.4(IGLL1):c.522G>A (p.Ala174=) rs374026526 0.00001
NM_020070.4(IGLL1):c.54C>G (p.Pro18=) rs1437649021 0.00001
NM_020070.4(IGLL1):c.102A>G (p.Val34=)
NM_020070.4(IGLL1):c.117G>A (p.Leu39=)
NM_020070.4(IGLL1):c.123A>G (p.Pro41=)
NM_020070.4(IGLL1):c.180G>A (p.Arg60=)
NM_020070.4(IGLL1):c.207-8C>T rs1459622736
NM_020070.4(IGLL1):c.210C>T (p.Phe70=) rs2123698333
NM_020070.4(IGLL1):c.213G>A (p.Leu71=)
NM_020070.4(IGLL1):c.216C>T (p.Leu72=) rs2123698319
NM_020070.4(IGLL1):c.222C>T (p.Arg74=) rs111509516
NM_020070.4(IGLL1):c.234T>C (p.Thr78=) rs148009596
NM_020070.4(IGLL1):c.252C>T (p.Pro84=)
NM_020070.4(IGLL1):c.267C>T (p.Ser89=)
NM_020070.4(IGLL1):c.306C>T (p.Thr102=)
NM_020070.4(IGLL1):c.315C>T (p.Thr105=) rs2275975
NM_020070.4(IGLL1):c.318T>C (p.Val106=)
NM_020070.4(IGLL1):c.322+15C>T rs2123698065
NM_020070.4(IGLL1):c.322+8G>A rs1924982404
NM_020070.4(IGLL1):c.323-20C>T
NM_020070.4(IGLL1):c.399G>A (p.Leu133=)
NM_020070.4(IGLL1):c.438G>C (p.Thr146=) rs377678203
NM_020070.4(IGLL1):c.444C>G (p.Thr148=)
NM_020070.4(IGLL1):c.45G>A (p.Glu15=) rs1023913513
NM_020070.4(IGLL1):c.468C>A (p.Ile156=) rs536839343
NM_020070.4(IGLL1):c.489C>T (p.Thr163=)
NM_020070.4(IGLL1):c.519C>T (p.Tyr173=)
NM_020070.4(IGLL1):c.525C>T (p.Ala175=) rs2123695696
NM_020070.4(IGLL1):c.546G>A (p.Thr182=) rs146592375
NM_020070.4(IGLL1):c.559A>C (p.Arg187=)
NM_020070.4(IGLL1):c.606C>G (p.Thr202=)
NM_020070.4(IGLL1):c.609G>A (p.Val203=) rs747588803
NM_020070.4(IGLL1):c.633A>G (p.Glu211=)
NM_020070.4(IGLL1):c.82C>T (p.Leu28=)

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