ClinVar Miner

Variants studied for Pseudohypoparathyroidism

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
22 1 2 0 1 25

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
GNAS 22 1 2 1 25

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 18 0 0 0 18
Johns Hopkins Genomics,Johns Hopkins University 4 0 2 1 7
GeneReviews 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 1

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