ClinVar Miner

List of variants in gene combination EFCAB13-DT, ITGB3 reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.*1542C>T rs73322321 0.01652
NM_000212.3(ITGB3):c.*919C>T rs73322319 0.01650
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692

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