ClinVar Miner

List of variants in gene ITGB4 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_000213.5(ITGB4):c.1343C>T (p.Ala448Val) rs144804175 0.00053
NM_000213.5(ITGB4):c.502A>G (p.Thr168Ala) rs139287033 0.00053
NM_000213.5(ITGB4):c.2123C>T (p.Pro708Leu) rs146500584 0.00035
NM_000213.5(ITGB4):c.469+5G>A rs141369871 0.00034
NM_000213.5(ITGB4):c.3057C>T (p.Gly1019=) rs139146525 0.00029
NM_000213.5(ITGB4):c.2674C>T (p.Arg892Cys) rs139933962 0.00022
NM_000213.5(ITGB4):c.738+3G>A rs374647847 0.00018
NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp) rs200122430 0.00011
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000213.5(ITGB4):c.2962+14G>A rs369351466 0.00004
NM_000213.5(ITGB4):c.3215G>A (p.Arg1072Gln) rs750423295 0.00004
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His) rs147026529 0.00004
NM_000213.5(ITGB4):c.3317A>G (p.Asp1106Gly) rs370112615 0.00002
NM_000213.5(ITGB4):c.2755G>A (p.Gly919Ser) rs372890193 0.00001
NM_000213.5(ITGB4):c.3571G>A (p.Asp1191Asn) rs765676725 0.00001
NM_000213.5(ITGB4):c.2503C>A (p.Pro835Thr) rs183705877
NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp) rs146269824
NM_000213.5(ITGB4):c.690T>A (p.Asp230Glu) rs2060802259

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