ClinVar Miner

Variants studied for Abdominal pain; Hepatic failure; Renal insufficiency; Anxiety; Polyneuropathy; Decreased liver function; Morphological abnormality of the central nervous system; Nausea and vomiting; Elevated urinary delta-aminolevulinic acid; Paresthesia; Acute episodes of neuropathic symptoms; Increased urinary porphobilinogen; Abnormal pineal melatonin secretion

Coded as:
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
0 1 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination likely pathogenic total
HMBS 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter likely pathogenic total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1

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