ClinVar Miner

Variants from Institute of Human Genetics, Polish Academy of Sciences

Location: Poland  Primary collection method: research
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 0 102 0 0 102

Gene and significance breakdown #

Total genes and gene combinations: 95
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Gene or gene combination uncertain significance total
​intergenic 3 3
MUC5AC 3 3
KIR3DL1 2 2
PCSK9 2 2
TRA, TRAV19 2 2
ABCA1 1 1
ABLIM2 1 1
AEBP1 1 1
ALDH1L1 1 1
ANAPC1 1 1
ANKMY2 1 1
AP5Z1 1 1
ATAT1 1 1
BCAN 1 1
BUB1B-PAK6, PAK6 1 1
CD109 1 1
CFHR2 1 1
CHKB-CPT1B, CPT1B 1 1
CIAO3 1 1
COL17A1 1 1
COL5A3 1 1
CRYGD, LOC100507443 1 1
DAB2IP 1 1
DUT 1 1
EGFLAM 1 1
ELAVL4 1 1
EPHA8 1 1
FBN2 1 1
FHIP1A 1 1
FLII 1 1
FLRT3, MACROD2 1 1
FUCA2 1 1
FZD2 1 1
GNA14 1 1
GRB7 1 1
HMX2 1 1
HSD17B14 1 1
IFIT1B 1 1
IL1RAP 1 1
IL36B 1 1
INA 1 1
KDR 1 1
KIR2DL1 1 1
KRTAP9-2 1 1
LAMA5 1 1
LGMN 1 1
LIMK1 1 1
LOC129994346, WDR36 1 1
LRP1B 1 1
LRP6 1 1
MCL1 1 1
NANOGP8 1 1
NBPF19 1 1
NEIL2 1 1
NF1 1 1
NFATC3 1 1
NFE2L3 1 1
NFKB1 1 1
NRCAM 1 1
PAXBP1 1 1
PDE6B 1 1
PGAP1 1 1
PGS1 1 1
PIGT 1 1
PIK3CG 1 1
PPP3CC 1 1
PRKAA2 1 1
PRPF38B 1 1
PSAT1 1 1
PTK6 1 1
PTPRZ1 1 1
PYGM 1 1
RABEPK 1 1
RALGAPB 1 1
RPL4 1 1
SEMA3C 1 1
SIPA1L2 1 1
SLC22A5 1 1
SLC25A25 1 1
SLC28A1 1 1
SLC35E2B 1 1
SLC6A19 1 1
SNTG2 1 1
ST14 1 1
STAC2 1 1
TRB, TRBV12-5 1 1
TSC22D2 1 1
UCMA 1 1
VANGL1 1 1
WNT1 1 1
ZC3H13 1 1
ZNF107 1 1
ZNF446 1 1
ZNF536 1 1
ZNF692 1 1

Condition and significance breakdown #

Total conditions: 2
Download table as spreadsheet
Condition uncertain significance total
High myopia 73 73
Keratoconus 29 29

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