ClinVar Miner

List of variants studied for Brooke-Spiegler syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_015247.2(CYLD):c.*1102G>A rs141088048
NM_015247.2(CYLD):c.*1245T>C rs192470603
NM_015247.2(CYLD):c.*1308A>G rs886052054
NM_015247.2(CYLD):c.*1341T>G rs140767609
NM_015247.2(CYLD):c.*1575G>A rs184344245
NM_015247.2(CYLD):c.*1587dupA rs886052055
NM_015247.2(CYLD):c.*1590T>C rs528844666
NM_015247.2(CYLD):c.*1667G>T rs750022206
NM_015247.2(CYLD):c.*1727T>C rs886052056
NM_015247.2(CYLD):c.*1746C>T rs886052057
NM_015247.2(CYLD):c.*1810A>T rs886052058
NM_015247.2(CYLD):c.*1831G>A rs181246559
NM_015247.2(CYLD):c.*1983T>C rs867027657
NM_015247.2(CYLD):c.*2121_*2122delAA rs74757288
NM_015247.2(CYLD):c.*2122delA rs74757288
NM_015247.2(CYLD):c.*2150A>G rs563954578
NM_015247.2(CYLD):c.*2236C>T rs57638820
NM_015247.2(CYLD):c.*2305A>T rs559634329
NM_015247.2(CYLD):c.*2335T>C rs9646285
NM_015247.2(CYLD):c.*2369G>A rs16948829
NM_015247.2(CYLD):c.*2438G>A rs886052061
NM_015247.2(CYLD):c.*2556A>G rs747682326
NM_015247.2(CYLD):c.*2615A>G rs181056407
NM_015247.2(CYLD):c.*2646G>A rs563329143
NM_015247.2(CYLD):c.*2710C>T rs141928186
NM_015247.2(CYLD):c.*2856T>C rs778856255
NM_015247.2(CYLD):c.*2975C>T rs886052062
NM_015247.2(CYLD):c.*3000C>G rs886052063
NM_015247.2(CYLD):c.*3070A>G rs144667145
NM_015247.2(CYLD):c.*3119delT rs149875014
NM_015247.2(CYLD):c.*3148T>C rs555603514
NM_015247.2(CYLD):c.*3229C>T rs752862278
NM_015247.2(CYLD):c.*3305A>G rs886052065
NM_015247.2(CYLD):c.*3384G>A rs886052066
NM_015247.2(CYLD):c.*3469T>C rs111951225
NM_015247.2(CYLD):c.*3614C>A rs372370285
NM_015247.2(CYLD):c.*3679T>C rs141888517
NM_015247.2(CYLD):c.*3722T>G rs886052067
NM_015247.2(CYLD):c.*3731C>T rs551109634
NM_015247.2(CYLD):c.*3736G>A rs567662515
NM_015247.2(CYLD):c.*3739C>G rs16948836
NM_015247.2(CYLD):c.*382T>C rs142580891
NM_015247.2(CYLD):c.*403T>C rs886052052
NM_015247.2(CYLD):c.*4388C>T rs781004605
NM_015247.2(CYLD):c.*4470C>A rs755710819
NM_015247.2(CYLD):c.*4485G>C rs886052068
NM_015247.2(CYLD):c.*4494G>A rs546313281
NM_015247.2(CYLD):c.*4561G>A rs17314948
NM_015247.2(CYLD):c.*4567C>T rs113748745
NM_015247.2(CYLD):c.*468A>C rs886052053
NM_015247.2(CYLD):c.*4691A>G rs886052069
NM_015247.2(CYLD):c.*4702C>T rs886052070
NM_015247.2(CYLD):c.*47G>A rs116979331
NM_015247.2(CYLD):c.*4841G>A rs886052071
NM_015247.2(CYLD):c.*4885A>T rs184571054
NM_015247.2(CYLD):c.*4888_*4889delAT rs143814807
NM_015247.2(CYLD):c.*4947G>A rs567438576
NM_015247.2(CYLD):c.*5086A>G rs572929759
NM_015247.2(CYLD):c.*5272C>T rs140875917
NM_015247.2(CYLD):c.*5384A>G rs886052072
NM_015247.2(CYLD):c.*698T>G rs541975303
NM_015247.2(CYLD):c.*779G>A rs190787930
NM_015247.2(CYLD):c.*831C>T rs144877731
NM_015247.2(CYLD):c.*837A>G rs3743781
NM_015247.2(CYLD):c.*841G>A rs117537927
NM_015247.2(CYLD):c.-161A>G rs886052051
NM_015247.2(CYLD):c.-23A>C rs771486432
NM_015247.2(CYLD):c.-366G>C rs886052050
NM_015247.2(CYLD):c.1166C>G (p.Thr389Arg) rs200759332
NM_015247.2(CYLD):c.1172T>C (p.Ile391Thr) rs138976689
NM_015247.2(CYLD):c.126G>A (p.Pro42=) rs202119806
NM_015247.2(CYLD):c.1292G>A (p.Gly431Glu) rs200494719
NM_015247.2(CYLD):c.1473C>T (p.Ile491=) rs75757530
NM_015247.2(CYLD):c.1503C>T (p.Leu501=) rs752471076
NM_015247.2(CYLD):c.2109-10G>A rs11865799
NM_015247.2(CYLD):c.2145T>C (p.Tyr715=) rs200905032
NM_015247.2(CYLD):c.2319G>A (p.Leu773=) rs199912760
NM_015247.2(CYLD):c.2412C>T (p.Asp804=) rs2066852
NM_015247.2(CYLD):c.2465C>T (p.Thr822Ile) rs775394735
NM_015247.2(CYLD):c.543C>T (p.Tyr181=) rs752294416
NM_015247.2(CYLD):c.59T>G (p.Ile20Ser) rs764097337
NM_015247.2(CYLD):c.922+9C>A rs528253971

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