ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by Mendelics

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Total variants: 17
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NM_004656.4(BAP1):c.1166G>A (p.Arg389His) rs770778299
NM_004656.4(BAP1):c.1201T>G (p.Tyr401Asp) rs376563004
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter) rs1559587104
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu) rs770422186
NM_004656.4(BAP1):c.1642C>T (p.Arg548Cys) rs748853790
NM_004656.4(BAP1):c.1651C>G (p.Arg551Gly) rs755664216
NM_004656.4(BAP1):c.1793C>G (p.Pro598Arg) rs763927840
NM_004656.4(BAP1):c.1820C>T (p.Thr607Met) rs770654975
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125
NM_004656.4(BAP1):c.206C>T (p.Thr69Met) rs572063023
NM_004656.4(BAP1):c.2076G>A (p.Val692=) rs747712653
NM_004656.4(BAP1):c.2162C>G (p.Ser721Cys) rs1553644521

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