ClinVar Miner

Variants in gene ITGA2B with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp) rs143967758 0.00277
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
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_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000419.5(ITGA2B):c.1210+8A>G rs771317292 0.00005
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000419.5(ITGA2B):c.945+9C>A rs776521459 0.00001
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)

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