ClinVar Miner

Variants from ClinGen Monogenic Diabetes Variant Curation Expert Panel

Location: United States  Primary collection method: curation
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
250 236 234 22 18 760

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HNF1A 87 82 128 8 9 314
GCK 129 118 50 6 3 306
HNF4A 32 32 44 8 3 119
C12orf43, HNF1A 2 4 13 0 3 22

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Monogenic diabetes 245 229 234 22 18 748
Maturity-onset diabetes of the young type 2 5 7 0 0 0 12

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