ClinVar Miner

List of variants in gene BAP1 reported as pathogenic for nervous system neoplasm

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter) rs1553645146
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs) rs1351986946
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter) rs1578219056
NM_004656.4(BAP1):c.605G>A (p.Trp202Ter) rs2153227652
NM_004656.4(BAP1):c.932-151G>A rs1705120040
NM_004656.4(BAP1):c.932-8_960del rs1559588632

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