ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.*444C>T rs123598 0.03611
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342 0.02383
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_004656.4(BAP1):c.*974C>T rs9855479 0.01794
NM_004656.4(BAP1):c.*392C>T rs112026686 0.00839
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_004656.4(BAP1):c.*385A>T rs143014714 0.00187
NM_004656.4(BAP1):c.*441G>T rs146324979 0.00166
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_004656.4(BAP1):c.*300A>G rs150842955 0.00148
NM_004656.4(BAP1):c.*37G>A rs139307137 0.00147
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004656.4(BAP1):c.*60C>T rs564062251 0.00051
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004656.4(BAP1):c.1427T>C (p.Val476Ala) rs144060813 0.00044
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883 0.00037
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_004656.4(BAP1):c.*808T>C rs560014343 0.00019
NM_004656.4(BAP1):c.534C>T (p.Gly178=) rs200285587 0.00016
NM_004656.4(BAP1):c.912C>A (p.Ala304=) rs201809705 0.00016
NM_004656.4(BAP1):c.1407C>T (p.Ser469=) rs150524807 0.00015
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_004656.4(BAP1):c.*643G>A rs374367093 0.00010
NM_004656.4(BAP1):c.*750A>G rs1000745082 0.00010
NM_004656.4(BAP1):c.-10C>T rs200018055 0.00009
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694 0.00009
NM_004656.4(BAP1):c.1749G>A (p.Ser583=) rs147775249 0.00007
NM_004656.4(BAP1):c.931+10G>C rs199560386 0.00006
NM_004656.4(BAP1):c.*36C>T rs375252451 0.00005
NM_004656.4(BAP1):c.1338C>T (p.Asn446=) rs763735807 0.00005
NM_004656.4(BAP1):c.-68C>T rs1363254650 0.00004
NM_004656.4(BAP1):c.1497C>T (p.Ile499=) rs777417522 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser) rs915913191 0.00003
NM_004656.4(BAP1):c.2175G>A (p.Lys725=) rs760537008 0.00003
NM_004656.4(BAP1):c.*292G>A rs1025502515 0.00001
NM_004656.4(BAP1):c.*557C>T rs767310296 0.00001
NM_004656.4(BAP1):c.*770T>C rs1481791777 0.00001
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947 0.00001
NM_004656.4(BAP1):c.1791C>T (p.Ser597=) rs751730111 0.00001
NM_004656.4(BAP1):c.341G>A (p.Arg114His) rs773494626 0.00001
NM_004656.4(BAP1):c.581-4C>T rs1578225974 0.00001
NM_004656.4(BAP1):c.581-6C>T rs754576458 0.00001
NM_004656.4(BAP1):c.74A>G (p.Lys25Arg) rs759337168 0.00001
NM_004656.4(BAP1):c.947C>T (p.Ala316Val) rs1365625070 0.00001
NM_004656.4(BAP1):c.*1064C>T rs886058700
NM_004656.4(BAP1):c.*1164G>C rs376927338
NM_004656.4(BAP1):c.*1164G>T rs376927338
NM_004656.4(BAP1):c.*222G>C rs886058704
NM_004656.4(BAP1):c.*350C>A rs1704968799
NM_004656.4(BAP1):c.*45C>G rs56898787
NM_004656.4(BAP1):c.*485G>T rs886058703
NM_004656.4(BAP1):c.*552C>A rs886058702
NM_004656.4(BAP1):c.*573G>A rs144145384
NM_004656.4(BAP1):c.*697G>A rs766301450
NM_004656.4(BAP1):c.*830T>C rs886058701
NM_004656.4(BAP1):c.*847C>T rs1704950944
NM_004656.4(BAP1):c.*876C>T rs1704949793
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.1710G>C (p.Leu570=) rs1705036297
NM_004656.4(BAP1):c.2183G>C (p.Arg728Pro) rs773230722
NM_004656.4(BAP1):c.255+11C>T rs1403461481
NM_004656.4(BAP1):c.783+11T>C rs1705153387
NM_004656.4(BAP1):c.821A>C (p.His274Pro) rs565400314
NM_004656.4(BAP1):c.908C>T (p.Ala303Val) rs753460994

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