ClinVar Miner

List of variants reported as likely pathogenic for Tumor susceptibility linked to germline BAP1 mutations

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Total variants: 20
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HGVS dbSNP
NC_000003.11:g.(?_52438463)_(52442628_?)del
NC_000003.11:g.(?_52439116)_(52439938_?)del
NM_004656.3(BAP1):c.68-2_68-1ins22
NM_004656.4(BAP1):c.122+1G>A
NM_004656.4(BAP1):c.123-1G>C rs1060503732
NM_004656.4(BAP1):c.1251-1G>A
NM_004656.4(BAP1):c.1730-1G>A rs1559586168
NM_004656.4(BAP1):c.1984-1G>A rs1553644634
NM_004656.4(BAP1):c.1984-3_1999del
NM_004656.4(BAP1):c.254_255+15del rs1559591511
NM_004656.4(BAP1):c.255+1G>T rs1060503750
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004656.4(BAP1):c.375+1G>T
NM_004656.4(BAP1):c.437+1G>T rs1553645838
NM_004656.4(BAP1):c.580+1G>A rs1553645785
NM_004656.4(BAP1):c.581-1G>A rs1553645729
NM_004656.4(BAP1):c.581-1G>T rs1553645729
NM_004656.4(BAP1):c.660-2A>G rs1559589809
NM_004656.4(BAP1):c.783+2T>C rs774730309
NM_004656.4(BAP1):c.932-2A>T

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