ClinVar Miner

Variants in gene BAP1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 34
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_004656.4(BAP1):c.1891-30G>C rs146661777 0.00328
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_004656.4(BAP1):c.519T>C (p.Tyr173=) rs143901408 0.00059
NM_004656.4(BAP1):c.1320G>A (p.Leu440=) rs77722216 0.00056
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004656.4(BAP1):c.1427T>C (p.Val476Ala) rs144060813 0.00044
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790 0.00041
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_004656.4(BAP1):c.376-4G>A rs369277958 0.00016
NM_004656.4(BAP1):c.534C>T (p.Gly178=) rs200285587 0.00016
NM_004656.4(BAP1):c.651C>T (p.Ala217=) rs202170860 0.00016
NM_004656.4(BAP1):c.912C>A (p.Ala304=) rs201809705 0.00016
NM_004656.4(BAP1):c.2091C>T (p.Ser697=) rs754513396 0.00014
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu) rs140998455 0.00011
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694 0.00009
NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly) rs747109385 0.00009
NM_004656.4(BAP1):c.1872G>A (p.Gly624=) rs375950004 0.00009
NM_004656.4(BAP1):c.869A>G (p.Asn290Ser) rs747079481 0.00008
NM_004656.4(BAP1):c.37+31G>C rs200628603 0.00006
NM_004656.4(BAP1):c.1338C>T (p.Asn446=) rs763735807 0.00005
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004656.4(BAP1):c.1551G>A (p.Thr517=) rs145158446 0.00002
NM_004656.4(BAP1):c.924C>T (p.Asn308=) rs749945143 0.00002

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