ClinVar Miner

Variants from Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

Location: United States — Primary collection method: not provided
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 0 234 0 0 234

Gene and significance breakdown #

Total genes and gene combinations: 42
Download table as spreadsheet
Gene or gene combination uncertain significance total
IDUA, SLC26A1 18 18
CASR 15 15
SLC4A2 13 13
WNK4 11 11
ACLY 10 10
GCM2 10 10
SLC26A6 10 10
SLC12A1 9 9
SLC34A3 9 9
KL 8 8
PTH1R 8 8
KCNJ1 7 7
PIK3C2G 7 7
SLC12A3 7 7
SLC4A3 7 7
TRPV5 7 7
UMOD 7 7
SLC34A1 6 6
CLCNKA, LOC106501712 5 5
SLC26A2 5 5
CLCNKB, LOC106501713 4 4
CLDN14 4 4
CLDN19 4 4
SLC25A1 4 4
SLC4A1 4 4
SLC9A3R1 4 4
TRPV6 4 4
CLCN5 3 3
CLDN10 3 3
ACO2, POLR3H 2 2
CLCNKB 2 2
CLDN2 2 2
CLDN8 2 2
PTH 2 2
SLC13A2 2 2
SLC9A3R2 2 2
VDR 2 2
ACO2 1 1
CLCNKA 1 1
FGF23 1 1
PDZK1 1 1
SLC13A3 1 1

Condition and significance breakdown #

Total conditions: 1
Download table as spreadsheet
Condition uncertain significance total
not provided 234 234

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.