ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.206C>T (p.Thr69Met) rs572063023 0.00004
NM_004656.4(BAP1):c.273T>A (p.Cys91Ter)
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860

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