ClinVar Miner

List of variants in gene ITGB2 reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_000211.5(ITGB2):c.1323T>C (p.Val441=) rs235326 0.74399
NM_000211.5(ITGB2):c.741+235G>A rs2235133 0.63182
NM_000211.5(ITGB2):c.500-170T>C rs1041457 0.38225
NM_000211.5(ITGB2):c.329-281A>G rs2838733 0.30431
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_000211.5(ITGB2):c.993+42T>C rs2838728 0.22218
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NM_000211.5(ITGB2):c.1877+160_1877+161del rs34110149 0.21488
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000211.5(ITGB2):c.1225-201C>A rs235327 0.20759
NM_000211.5(ITGB2):c.897+312C>T rs12627394 0.20346
NM_000211.5(ITGB2):c.*122G>A rs684 0.19694
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_000211.5(ITGB2):c.500-299C>T rs60426421 0.15850
NM_000211.5(ITGB2):c.500-29C>T rs5030669 0.15740
NM_000211.5(ITGB2):c.328+252G>A rs75887000 0.13215
NM_000211.5(ITGB2):c.328+15G>A rs5030668 0.13213
NM_000211.5(ITGB2):c.741+181G>A rs35963032 0.12957
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_000211.5(ITGB2):c.147+16A>G rs34580582 0.07739
NM_000211.5(ITGB2):c.148-16G>T rs2072703 0.06628
NM_000211.5(ITGB2):c.742-197G>A rs61264894 0.05540
NM_000211.5(ITGB2):c.1225-107C>T rs8127060 0.05121
NM_000211.5(ITGB2):c.1224+179G>A rs35280729 0.05018
NM_000211.5(ITGB2):c.1413-82A>G rs73374577 0.03819
NM_000211.5(ITGB2):c.499+7C>T rs17004715 0.03552
NM_000211.5(ITGB2):c.148-131G>A rs115818769 0.01820
NM_000211.5(ITGB2):c.328+181C>T rs74555472 0.01819
NM_000211.5(ITGB2):c.329-73C>T rs115877184 0.01699
NM_000211.5(ITGB2):c.1878-176A>G rs79060910 0.01673
NM_000211.5(ITGB2):c.1878-85T>C rs376121132 0.01577
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn) rs141799330 0.00317
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
NM_000211.5(ITGB2):c.1274C>T (p.Ser425Leu) rs375122306 0.00019
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000211.5(ITGB2):c.1768T>C (p.Cys590Arg) rs1064794298 0.00001
NM_000211.5(ITGB2):c.*145C>A rs1160263
NM_000211.5(ITGB2):c.1224+178T>A rs4818740
NM_000211.5(ITGB2):c.148-277C>T rs2072702
NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter) rs748574145
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.2013G>A (p.Trp671Ter) rs942375725
NM_000211.5(ITGB2):c.2080+167G>A rs882549
NM_000211.5(ITGB2):c.2146G>C (p.Gly716Arg) rs1064794297
NM_000211.5(ITGB2):c.2247+44G>A rs5030673
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.741+200C>T rs35934861
NM_000211.5(ITGB2):c.742-179_742-163del rs79643064
NM_000211.5(ITGB2):c.79A>T (p.Lys27Ter) rs189250711
NM_000211.5(ITGB2):c.897+270C>G rs12627407
NM_000211.5(ITGB2):c.897+272del rs35203235
NM_000211.5(ITGB2):c.991G>T (p.Glu331Ter) rs755600323

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