ClinVar Miner

Variants studied for Immunodeficiency

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
3 1 376 226 32 638

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NFAT5 0 0 369 226 32 627
C8G 0 0 2 0 0 2
CD27 2 0 0 0 0 2
AARS1, AP1G1, ATXN1L, CALB2, CHST4, CLEC18A, CLEC18C, CMTR2, COG4, DDX19A, DDX19B, DHODH, DHX38, EXOSC6, FCSK, HP, HPR, HYDIN, IL34, IST1, LOC400541, MARVELD3, MIR140, MTSS2, NFAT5, NOB1, NQO1, PDPR, PHLPP2, PKD1L3, SF3B3, ST3GAL2, TAT, TXNL4B, VAC14, WWP2, ZNF19, ZNF23, ZNF821 0 0 1 0 0 1
CCDC8 0 0 1 0 0 1
EFL1 0 0 1 0 0 1
MR1 1 0 0 0 0 1
RAG2 0 1 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1
SASH3 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 370 226 32 628
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 1
Rossjohn lab, Monash University 1 0 0 0 0 1

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