ClinVar Miner

List of variants in gene ITGB2 reported as likely pathogenic

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.314T>C (p.Leu105Pro) rs145851783 0.00031
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
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.2077C>T (p.Arg693Ter) rs2083734400 0.00001
NM_000211.5(ITGB2):c.809C>T (p.Ala270Val) rs147318988 0.00001
NM_000211.5(ITGB2):c.116del (p.Ser39fs)
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1415del (p.Cys472fs) rs1601284455
NM_000211.5(ITGB2):c.1835G>T (p.Cys612Phe) rs2083749716
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000211.5(ITGB2):c.2146G>C (p.Gly716Arg) rs1064794297
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter) rs1464015799
NM_000211.5(ITGB2):c.322C>T (p.Arg108Ter) rs772471533
NM_000211.5(ITGB2):c.393T>A (p.Tyr131Ter)
NM_000211.5(ITGB2):c.59-1G>A
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.741+1G>A rs1131691763
NM_000211.5(ITGB2):c.742-163_768del
NM_000211.5(ITGB2):c.898-1G>C rs755834578
NM_000211.5(ITGB2):c.993+1G>T
NM_000211.5(ITGB2):c.994-1G>C rs1293268696

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