ClinVar Miner

Variants studied for Glucose-6-phosphate transport defect

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
45 40 256 154 13 493

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC37A4 45 40 254 154 13 491
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 0 0 1 0 0 1
DPAGT1, H2AX, HMBS, HYOU1, SLC37A4, 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
Counsyl 0 27 189 130 0 346
Invitae 31 5 64 24 12 136
Natera, Inc. 4 0 24 5 6 39
Integrated Genetics/Laboratory Corporation of America 10 5 0 0 0 15
OMIM 14 0 0 0 0 14
Centogene AG - the Rare Disease Company 2 1 0 0 0 3
GeneReviews 3 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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