ClinVar Miner

Variants studied for Retinitis Pigmentosa, Dominant

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 0 466 307 30 803

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination uncertain significance likely benign benign total
CRX 35 39 25 99
AIPL1 43 33 0 76
PRPF8 42 29 0 71
SNRNP200 44 18 0 62
RP1 40 21 0 61
PRPH2 29 22 0 51
PRPF6 25 18 0 43
TOPORS 19 16 0 35
PRPF31 20 11 1 32
CLRN1 22 6 3 31
KLHL7 20 11 0 31
IMPDH1 21 8 0 29
GUCA1B 16 11 0 27
ROM1 19 7 0 26
GUCA1A, GUCA1B 0 24 0 24
NRL 13 8 0 21
PRPF3 14 7 0 21
ZNF513 19 0 0 19
CA4 12 6 0 18
RP9 1 5 1 7
LOC112841608, SNRNP200 3 2 0 5
PRPF31, TFPT 2 2 0 4
SMIM27, TOPORS 3 1 0 4
SNX17, ZNF513 3 1 0 4
IMPDH1, LOC107986845 1 1 0 2

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 466 307 30 803

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