ClinVar Miner

List of variants in gene ITGB3 studied for Glanzmann thrombasthenia 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00006
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) rs121918452 0.00002
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NG_008332.2:g.48605_58661del
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr) rs121918449
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) rs2143112940
NM_000212.3(ITGB3):c.165+1G>T rs2143068731
NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr) rs2143129695
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) rs121918451
NM_000212.3(ITGB3):c.1975C>T (p.Arg659Cys)
NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs) rs2143138089
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) rs121918445
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg)
NM_000212.3(ITGB3):c.615-1G>A
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) rs79560904
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853

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