ClinVar Miner

Variants in gene BAP1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.572T>C (p.Ile191Thr) rs752793866 0.00001
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu) rs142059527
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val) rs144993791

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