ClinVar Miner

Variants studied for Brugada syndrome 8

Coded as:
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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 total
6 8 790 566 43 1410

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HCN4 3 8 731 516 43 1299
HCN4, LOC105370890, LOC126862173 2 0 52 44 0 98
HCN4, LOC105370890 1 0 5 6 0 11
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, HEXA, NEO1, TMEM202 0 0 1 0 0 1
ADPGK, ARIH1, BBS4, GOLGA6B, HCN4, NEO1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 8 785 566 43 1407
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 3
OMIM 1 0 1 0 0 2
Mendelics 0 0 1 0 1 2
Baylor Genetics 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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