ClinVar Miner

Variants studied for Cutaneous melanoma

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
86 81 0 0 0 3 170

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic not provided total
BRAF 17 30 0 47
KIT 27 6 0 33
NRAS 20 3 0 23
CTNNB1 5 10 0 15
MAP2K1 7 7 0 14
ERBB4 0 6 0 6
MAP2K2 0 5 0 5
PDGFRA 0 5 0 5
CDKN2A 1 2 0 3
GNAQ 3 0 0 3
PTEN 3 0 0 3
GNA11 2 0 0 2
MTOR 0 0 2 2
RAF1 0 2 0 2
AKT1 0 1 0 1
CDK4 0 1 0 1
HRAS, LRRC56 0 1 0 1
MAP2K1, SNAPC5 1 0 0 1
PIK3CA 0 1 0 1
RAC1 0 0 1 1
STK11 0 1 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic not provided total
Database of Curated Mutations (DoCM) 82 81 3 166
OMIM 4 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 1

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