ClinVar Miner

Variants from ARUP Institute,ARUP Laboratories

Location: United States — Primary collection method: clinical testing
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 not provided total
1342 6 100 5 74 110 1636

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL4A5 736 3 13 4 19 0 775
GALT 223 1 6 1 33 0 264
BTD 194 2 6 0 11 0 213
RET 105 0 75 0 7 0 186
SLC22A5 0 0 0 0 0 104 104
SMAD4 81 0 0 0 3 0 84
MIR3936HG, SLC22A5 0 0 0 0 0 6 6
COL4A5, COL4A6 4 0 0 0 0 0 4
BTD, HACL1 0 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alport syndrome 1, X-linked recessive 739 3 13 4 19 0 778
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 223 1 6 1 33 0 264
Biotinidase deficiency 194 2 6 0 12 0 214
Renal carnitine transport defect 0 0 0 0 0 110 110
not specified 0 0 75 0 7 0 82
Multiple endocrine neoplasia, type 2 74 0 0 0 0 0 74
Juvenile polyposis syndrome 58 0 0 0 3 0 61
Multiple endocrine neoplasia, type 2a 23 0 0 0 0 0 23
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 18 0 0 0 0 0 18
Multiple endocrine neoplasia, type 2b 8 0 0 0 0 0 8
JP and JP/HHT 6 0 0 0 0 0 6
Familial medullary thyroid carcinoma 1 0 0 0 0 0 1
JP, JP/HHT, and HHT 1 0 0 0 0 0 1
MEN2 phenotype: Unknown 0 0 1 0 0 0 1

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