ClinVar Miner

Variants in gene combination GALK1, ITGB4 with conflicting interpretations reported as "likely benign and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000213.5(ITGB4):c.3976+15G>C rs2603499 0.02476
NM_000213.5(ITGB4):c.5053+14C>T rs78884789 0.00949
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000213.5(ITGB4):c.5408G>A (p.Arg1803Gln) rs80224547 0.00477
NM_000213.5(ITGB4):c.5367C>T (p.Gly1789=) rs200199740 0.00332
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_000213.5(ITGB4):c.4509G>A (p.Ser1503=) rs3191773 0.00241
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) rs145351926 0.00213
NM_000213.5(ITGB4):c.5219-3C>T rs200010813 0.00044
NM_000213.5(ITGB4):c.4902C>G (p.Ser1634=) rs57812564
NM_000213.5(ITGB4):c.5055G>A (p.Gly1685=) rs148658410
NM_000213.5(ITGB4):c.5055G>C (p.Gly1685=) rs148658410
NM_000213.5(ITGB4):c.5219-15A>G rs142184100

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