ClinVar Miner

List of variants in gene combination EFCAB13-DT, ITGB3 reported as benign for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.*1016T>A rs3809865 0.69848
NM_000212.3(ITGB3):c.2301+9C>T rs3809863 0.46212
NM_000212.3(ITGB3):c.*713A>G rs2317676 0.09380
NM_000212.3(ITGB3):c.*2327G>A rs58365772 0.05104
NM_000212.3(ITGB3):c.*671C>T rs16941864 0.04199
NM_000212.3(ITGB3):c.*1479T>C rs115310198 0.01139
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) rs73322311 0.00885
NM_000212.3(ITGB3):c.*2455A>C rs73322322 0.00876
NM_000212.3(ITGB3):c.*517C>T rs192380904 0.00587
NM_000212.3(ITGB3):c.*1985T>C rs148880380 0.00583
NM_000212.3(ITGB3):c.*639G>A rs17225109

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