ClinVar Miner

List of variants reported as uncertain significance for BAP1-related tumor predisposition syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP
NM_004656.4(BAP1):c.*1064C>T rs886058700
NM_004656.4(BAP1):c.*222G>C rs886058704
NM_004656.4(BAP1):c.*485G>T rs886058703
NM_004656.4(BAP1):c.*552C>A rs886058702
NM_004656.4(BAP1):c.*60C>T rs564062251
NM_004656.4(BAP1):c.*697G>A rs766301450
NM_004656.4(BAP1):c.*830T>C rs886058701
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1250+2T>G rs1559587582
NM_004656.4(BAP1):c.1407C>T (p.Ser469=) rs150524807
NM_004656.4(BAP1):c.1497C>T (p.Ile499=) rs777417522
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947
NM_004656.4(BAP1):c.1791C>T (p.Ser597=) rs751730111
NM_004656.4(BAP1):c.581-6C>T rs754576458
NM_004656.4(BAP1):c.74A>G (p.Lys25Arg) rs759337168
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260
NM_004656.4(BAP1):c.908C>T (p.Ala303Val) rs753460994

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