ClinVar Miner

Variants studied for Moyamoya disease 2

Included ClinVar conditions (1):
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 risk factor total
0 5 30 0 0 3 36

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic uncertain significance risk factor total
RNF213 5 30 3 36

Submitter and significance breakdown #

Total submitters: 4
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Submitter likely pathogenic uncertain significance risk factor total
UMR-S1161,Institut national de la santé et de la recherche médicale 2 21 0 23
Department of Internal Medicine, University of Texas Health Science Center at Houston 3 9 0 12
OMIM 0 0 3 3
GOSgene,University College London Great Ormond Street Institute of Child Health 1 1 0 2

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