ClinVar Miner

Variants with conflicting interpretations "likely benign" from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen and "uncertain significance" from any submitter

Minimum review status of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)

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