ClinVar Miner

Variants studied for GLUT1 deficiency syndrome 1, autosomal recessive

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
135 23 282 243 31 713

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
SLC2A1 135 23 280 234 31 702
LOC129930369, SLC2A1 0 0 1 9 0 10
CFAP144, CFAP57, EBNA1BP2, SLC2A1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 133 23 282 243 31 712
OMIM 3 0 0 0 0 3

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