ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 8
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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.1212C>G (p.Asp404Glu) rs140998455 0.00011
NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys) rs748928044 0.00004
NM_004656.4(BAP1):c.206C>T (p.Thr69Met) rs572063023 0.00004
NM_004656.4(BAP1):c.944A>C (p.Glu315Ala) rs149974450 0.00004
NM_004656.4(BAP1):c.1243G>C (p.Ala415Pro) rs773097896 0.00001
NM_004656.4(BAP1):c.1251-3C>T rs767276752 0.00001
NM_004656.4(BAP1):c.1547C>T (p.Pro516Leu) rs755719248 0.00001

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