ClinVar Miner

Variants studied for Retinitis Pigmentosa, Recessive

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 0 1208 454 95 1757

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination uncertain significance likely benign benign total
CNGB1 87 37 3 127
EYS 83 28 6 117
PCARE 81 26 9 116
ABCA4 44 53 7 104
IMPG2 83 7 5 95
PDE6A 67 17 3 87
PDE6B 35 41 8 84
AIPL1 43 33 0 76
PROM1 46 21 4 71
USH2A 60 8 2 70
RBP3 53 4 0 57
LRAT 44 7 0 51
CRB1 16 26 3 45
DHDDS 38 4 1 43
FAM161A 34 7 2 43
MAK 36 2 4 42
MERTK 26 14 0 40
CYGB, PRCD 30 5 1 36
SEMA4A 30 5 1 36
NR2E3 31 3 0 34
RLBP1 10 19 5 34
BEST1 14 9 6 29
SPATA7 20 9 0 29
CERKL, ITGA4 19 6 3 28
C8orf37 20 7 0 27
IDH3B 22 1 1 24
TULP1 17 3 3 23
CERKL 15 4 3 22
SAG 12 8 2 22
CNGA1, LOC101927157 19 2 0 21
RGR 13 5 2 20
BEST1, FTH1 0 13 6 19
TTC8 16 2 1 19
RPE65 14 4 0 18
PDE6G 6 8 3 17
ARL6 10 3 1 14
GPHN, RDH12 5 3 0 8
GPHN, RDH12, ZFYVE26 8 0 0 8
LOC112806037, MERTK 1 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1208 454 95 1757

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