ClinVar Miner

Variants studied for Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis

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
78 33 1122 1265 51 2549

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
TERT 68 32 1038 1165 47 2350
LOC110806263, TERT 9 1 83 99 3 195
LOC110806264, TERT 0 0 0 1 1 2
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 78 33 1122 1265 51 2549

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