ClinVar Miner

Variants studied for Hereditary hemochromatosis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 pathogenic, low penetrance not provided total
105 27 112 827 41 2 3 1114

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
TFR2 65 20 58 602 25 0 0 770
HFE 25 5 29 121 8 2 2 189
LOC113687175, TFR2 14 1 12 44 1 0 0 72
HAMP 1 1 11 50 5 0 0 68
LOC129998967, TFR2 0 0 0 7 0 0 0 7
SLC40A1 0 0 1 3 0 0 0 4
LOC129935241, SLC40A1 0 0 1 0 2 0 0 3
MYO18A 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 104 27 109 824 39 2 0 1105
Illumina Laboratory Services, Illumina 0 0 3 3 2 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2

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