ClinVar Miner

Variants studied for Macular degeneration

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
1 0 384 358 76 811

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic uncertain significance likely benign benign total
HMCN1 0 179 74 0 253
ABCA4 0 42 54 7 103
ERCC6 0 39 47 14 100
C3 0 24 34 18 76
CFH 0 13 32 11 56
RAX2 0 18 18 8 44
FBLN5 0 11 25 7 43
C2, CFB 0 5 25 5 27
CFB 0 11 11 0 22
ERCC6, ERCC6-PGBD3 0 9 7 5 21
C2 0 13 5 0 18
HTRA1 0 10 6 0 16
ARMS2, HTRA1 0 0 13 0 13
ARMS2 0 6 3 0 9
ERCC6, ERCC6-PGBD3, PGBD3 0 4 4 1 9
FSCN2 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 384 358 76 810
OMIM 1 0 0 0 1

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