ClinVar Miner

Variants studied for AAT1

Included ClinVar conditions (2):
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 not provided total
0 0 1 1 0 2 1 5

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination uncertain significance likely benign risk factor not provided total
TGFBR2 1 1 0 0 2
COL3A1 0 0 1 0 1
MYH11 0 0 0 1 1
SMAD3 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter uncertain significance likely benign risk factor not provided total
CSER _CC_NCGL, University of Washington 1 1 0 0 2
Center of Vascular Surgery,The Second Affiliated Hospital of Nanchang University 0 0 2 0 2
GenomeConnect, ClinGen 0 0 0 1 1

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