ClinVar Miner

Variants studied for chronic cutaneous lupus erythematosus

Included ClinVar conditions (9):
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
48 15 285 132 33 503

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATRIP, ATRIP-TREX1, TREX1 44 12 259 126 11 444
SAMHD1 2 3 15 6 12 36
SAMHD1, TLDC2 0 0 11 0 9 20
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, C3orf84, CAMKV, CCDC71, CDHR4, CELSR3, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6 1 0 0 0 0 1
LOC130065805, SAMHD1 0 0 0 0 1 1
TRAF3IP2 1 0 0 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 43 5 259 124 11 442
Illumina Laboratory Services, Illumina 0 0 23 5 20 48
Fulgent Genetics, Fulgent Genetics 1 7 7 1 0 16
OMIM 3 0 0 0 0 3
Institute of Neurology, Charite University of Medicine 0 1 0 2 0 3
Baylor Genetics 2 0 0 0 0 2
New York Genome Center 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1

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