ClinVar Miner

Variants studied for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome

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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 not provided total
35 10 25 60 18 1 147

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HPRT1 30 9 22 53 18 1 131
HPRT1, LOC107032760, LOC129929047 4 1 2 7 0 0 14
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6 1 0 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 9 22 58 17 0 141
Fulgent Genetics, Fulgent Genetics 0 1 3 2 1 0 7
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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