ClinVar Miner

Variants studied for Severe combined immunodeficiency due to IKK2 deficiency

Coded as:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
17 2 186 395 25 621

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IKBKB 17 2 175 383 24 597
IKBKB, LOC126860373 0 0 8 12 1 21
ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, IKBKB, KAT6A, PLAT, POLB, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 1
AP3M2, IKBKB, KAT6A, PLAT 0 0 1 0 0 1
CHRNA6, CHRNB3, DKK4, FNTA, HGSNAT, HOOK3, IKBKB, POLB, POMK, RNF170, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 15 1 181 394 25 616
OMIM 2 0 0 0 0 2
Baylor Genetics 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1

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