ClinVar Miner

Variants studied for congenital hypothyroidism due to developmental anomaly

Included ClinVar conditions (3):
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
10 10 0 0 0 20

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic total
PAX8 7 1 8
NKX2-5 3 0 3
ARID4A, PSMA3, TIMM9, TOMM20L 0 2 2
LINC01121 0 2 2
VPS13C 0 2 2
COPB1, CYP2R1, PDE3B, PSMA1 0 1 1
CYP2R1, PDE3B, PSMA1 0 1 1
PSMD3 0 1 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic total
OMIM 10 0 10
Molecular Endocrinology Laboratory,Poznan University of Medical Sciences 0 9 9
Genetic Services Laboratory, University of Chicago 0 1 1

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