ClinVar Miner

Variants studied for Isolated microphthalmia 5

Coded as:
Minimum submission review status: Collection method:
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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
44 11 318 223 25 599

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
C1QTNF5, MFRP 44 11 317 223 25 598
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CCDC153, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 5 245 219 25 533
Illumina Laboratory Services, Illumina 0 1 82 4 0 87
OMIM 8 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 1 0 0 0 0 1
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 0 1 0 0 0 1

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