ClinVar Miner

Variants in gene ITGB4 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
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.2638G>A (p.Asp880Asn) rs139092703 0.00086
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val) rs149481974 0.00056
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys) rs150166497 0.00038
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His) rs147026529 0.00004
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr) rs147480547
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)
NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu) rs148770294

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