ClinVar Miner

List of variants in gene BAP1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala) rs374746213 0.00027
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn) rs765347562 0.00003
NM_004656.4(BAP1):c.2183G>T (p.Arg728Leu) rs773230722
NM_004656.4(BAP1):c.566A>G (p.Tyr189Cys) rs1578226365
NM_004656.4(BAP1):c.660-9_660-4del rs2153227505
NM_004656.4(BAP1):c.675C>T (p.Asp225=) rs961974192
NM_004656.4(BAP1):c.86T>G (p.Val29Gly) rs1553646295

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