ClinVar Miner

List of variants in gene 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: 18
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.1533A>G (p.Glu511=) rs4642 0.28601
NM_000212.3(ITGB3):c.1545G>A (p.Arg515=) rs4634 0.28592
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.13037
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) rs5919 0.10166
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) rs5920 0.01758
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_000212.3(ITGB3):c.362-30G>A rs147055245 0.00361
NM_000212.3(ITGB3):c.58C>T (p.Leu20=) rs548495900 0.00345
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) rs534654534 0.00344
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) rs5917 0.00091
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) rs768269394 0.00052
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) rs149823724 0.00031
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000212.3(ITGB3):c.1641C>T (p.Cys547=) rs185135224 0.00011
NM_000212.3(ITGB3):c.1143A>C (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) rs15908
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487

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