ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

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 not provided total
167 60 148 467 26 1 868

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 not provided total
GLB1 163 60 138 441 24 1 826
GLB1, LOC129936434, TMPPE 4 0 9 26 2 0 41
GLB1, LOC129936434 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 167 60 148 467 26 0 868
GenomeConnect - GM1 0 0 0 0 0 1 1

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