ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078
NM_004656.4(BAP1):c.1179G>T (p.Gln393His) rs771803950
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655
NM_004656.4(BAP1):c.1339G>A (p.Val447Ile) rs762654322
NM_004656.4(BAP1):c.1619G>A (p.Arg540His)
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004656.4(BAP1):c.227T>C (p.Ile76Thr) rs1221534458
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260

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