ClinVar Miner

Variants from Medical & Molecular Genetics Group,University of Lincoln

Location: United Kingdom — Primary collection method: literature only
Minimum submission review status: Collection method:
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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
429 0 18 0 0 447

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic uncertain significance total
BMPR2 360 15 375
ACVRL1 38 0 38
EIF2AK4 19 0 19
ENG 5 0 5
ENG, LOC102723566 4 0 4
SMAD4 0 2 2
BMPR2, NOP58, SNORD11, SNORD11B, SNORD70, SNORD70B 1 0 1
CAV1 1 0 1
KCNK3 1 0 1
SMAD1 0 1 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic uncertain significance total
Primary pulmonary hypertension 369 18 387
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia 30 0 30
Familial pulmonary capillary hemangiomatosis 19 0 19
Pulmonary arterial hypertension associated with congenital heart disease 6 0 6
Pulmonary hypertension, primary, dexfenfluramine-associated 3 0 3
Primary pulmonary hypertension 3 1 0 1
Primary pulmonary hypertension 4 1 0 1
Pulmonary veno-occlusive disease 1 0 1

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