ClinVar Miner

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

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Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.*4561G>A rs17314948 0.05808
NM_001378743.1(CYLD):c.2412C>T (p.Asp804=) rs2066852 0.05803
NM_001378743.1(CYLD):c.*837A>G rs3743781 0.05586
NM_001378743.1(CYLD):c.2109-10G>A rs11865799 0.05482
NM_001378743.1(CYLD):c.*4888_*4889del rs143814807 0.05112
NM_001378743.1(CYLD):c.*841G>A rs117537927 0.02264
NM_001378743.1(CYLD):c.*2369G>A rs16948829 0.01401
NM_001378743.1(CYLD):c.*3739C>G rs16948836 0.01185
NM_001378743.1(CYLD):c.*2236C>T rs57638820 0.00896
NM_001378743.1(CYLD):c.1473C>T (p.Ile491=) rs75757530 0.00802
NM_001378743.1(CYLD):c.*2335T>C rs9646285 0.00710
NM_001378743.1(CYLD):c.*139G>A rs148107725 0.00663
NM_001378743.1(CYLD):c.*1831G>A rs181246559 0.00617
NM_001378743.1(CYLD):c.*3469T>C rs111951225 0.00586
NM_001378743.1(CYLD):c.*1341T>G rs140767609 0.00526
NM_001378743.1(CYLD):c.*1575G>A rs184344245 0.00515
NM_001378743.1(CYLD):c.*3070A>G rs144667145 0.00435
NM_001378743.1(CYLD):c.*779G>A rs190787930 0.00347
NM_001378743.1(CYLD):c.*4567C>T rs113748745 0.00336
NM_001378743.1(CYLD):c.*2710C>T rs141928186 0.00225
NM_001378743.1(CYLD):c.*1590T>C rs528844666 0.00218
NM_001378743.1(CYLD):c.*47G>A rs116979331 0.00200
NM_001378743.1(CYLD):c.*698T>G rs541975303 0.00173
NM_001378743.1(CYLD):c.*3148T>C rs555603514 0.00112
NM_001378743.1(CYLD):c.*4388C>T rs781004605 0.00071
NM_001378743.1(CYLD):c.*3736G>A rs567662515 0.00056
NM_001378743.1(CYLD):c.*2615A>G rs181056407 0.00042
NM_001378743.1(CYLD):c.*4530G>T rs748716852 0.00042
NM_001378743.1(CYLD):c.*1810A>T rs886052058 0.00030
NM_001378743.1(CYLD):c.*5272C>T rs140875917 0.00030
NM_001378743.1(CYLD):c.*4947G>A rs567438576 0.00026
NM_001378743.1(CYLD):c.126G>A (p.Pro42=) rs202119806 0.00025
NM_001378743.1(CYLD):c.*2856T>C rs778856255 0.00024
NM_001378743.1(CYLD):c.*4885A>T rs184571054 0.00022
NM_001378743.1(CYLD):c.*4494G>A rs546313281 0.00019
NM_001378743.1(CYLD):c.2469+10C>T rs374473837 0.00018
NM_001378743.1(CYLD):c.*382T>C rs142580891 0.00017
NM_001378743.1(CYLD):c.*5086A>G rs572929759 0.00015
NM_001378743.1(CYLD):c.*2556A>G rs747682326 0.00013
NM_001378743.1(CYLD):c.913+5G>T rs200435608 0.00012
NM_001378743.1(CYLD):c.*59T>C rs950448066 0.00011
NM_001378743.1(CYLD):c.*1746C>T rs886052057 0.00010
NM_001378743.1(CYLD):c.*831C>T rs144877731 0.00009
NM_001378743.1(CYLD):c.*3229C>T rs752862278 0.00008
NM_001378743.1(CYLD):c.*3614C>A rs372370285 0.00008
NM_001378743.1(CYLD):c.2145T>C (p.Tyr715=) rs200905032 0.00008
NM_001378743.1(CYLD):c.*2975C>T rs886052062 0.00007
NM_001378743.1(CYLD):c.*3679T>C rs141888517 0.00007
NM_001378743.1(CYLD):c.665C>A (p.Thr222Lys) rs587778225 0.00007
NM_015247.2(CYLD):c.-414T>C rs534146333 0.00007
NM_001378743.1(CYLD):c.*1102G>A rs141088048 0.00005
NM_001378743.1(CYLD):c.*2305A>T rs559634329 0.00005
NM_001378743.1(CYLD):c.*3151T>G rs759858517 0.00005
NM_001378743.1(CYLD):c.*5060G>T rs888172609 0.00005
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser) rs764097337 0.00005
NM_001378743.1(CYLD):c.*3384G>A rs886052066 0.00004
NM_001378743.1(CYLD):c.*3731C>T rs551109634 0.00004
NM_001378743.1(CYLD):c.*3851T>C rs930910588 0.00004
NM_001378743.1(CYLD):c.*1245T>C rs192470603 0.00003
NM_001378743.1(CYLD):c.*5384A>G rs886052072 0.00003
NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr) rs138976689 0.00003
NM_001378743.1(CYLD):c.*3000C>G rs886052063 0.00002
NM_001378743.1(CYLD):c.*3305A>G rs886052065 0.00002
NM_001378743.1(CYLD):c.*468A>C rs886052053 0.00002
NM_001378743.1(CYLD):c.1503C>T (p.Leu501=) rs752471076 0.00002
NM_001378743.1(CYLD):c.2589T>C (p.Ala863=) rs201868355 0.00002
NM_001378743.1(CYLD):c.*1308A>G rs886052054 0.00001
NM_001378743.1(CYLD):c.*1651G>A rs1206094648 0.00001
NM_001378743.1(CYLD):c.*1667G>T rs750022206 0.00001
NM_001378743.1(CYLD):c.*1983T>C rs867027657 0.00001
NM_001378743.1(CYLD):c.*206A>C rs1406870242 0.00001
NM_001378743.1(CYLD):c.*2113A>G rs1972238592 0.00001
NM_001378743.1(CYLD):c.*2147T>G rs1323064285 0.00001
NM_001378743.1(CYLD):c.*2424C>T rs1972268579 0.00001
NM_001378743.1(CYLD):c.*2848A>G rs1972303099 0.00001
NM_001378743.1(CYLD):c.*29T>C rs1972065736 0.00001
NM_001378743.1(CYLD):c.*3865C>T rs1281354923 0.00001
NM_001378743.1(CYLD):c.*403T>C rs886052052 0.00001
NM_001378743.1(CYLD):c.*4470C>A rs755710819 0.00001
NM_001378743.1(CYLD):c.*4691A>G rs886052069 0.00001
NM_001378743.1(CYLD):c.*4702C>T rs886052070 0.00001
NM_001378743.1(CYLD):c.*4841G>A rs886052071 0.00001
NM_001378743.1(CYLD):c.-23A>C rs771486432 0.00001
NM_001378743.1(CYLD):c.1271C>A (p.Thr424Asn) rs759998669 0.00001
NM_001378743.1(CYLD):c.1294A>C (p.Ser432Arg) rs1248488179 0.00001
NM_001378743.1(CYLD):c.2319G>A (p.Leu773=) rs199912760 0.00001
NM_001378743.1(CYLD):c.543C>T (p.Tyr181=) rs752294416 0.00001
NM_001378743.1(CYLD):c.*1033T>A rs1972150827
NM_001378743.1(CYLD):c.*1034C>A rs1972151007
NM_001378743.1(CYLD):c.*1191C>G rs146935881
NM_001378743.1(CYLD):c.*1191C>T rs146935881
NM_001378743.1(CYLD):c.*1587dup rs886052055
NM_001378743.1(CYLD):c.*1727T>C rs886052056
NM_001378743.1(CYLD):c.*2026G>A rs1972229289
NM_001378743.1(CYLD):c.*2121_*2122del rs74757288
NM_001378743.1(CYLD):c.*2122del rs74757288
NM_001378743.1(CYLD):c.*2150A>G rs563954578
NM_001378743.1(CYLD):c.*2438G>A rs886052061
NM_001378743.1(CYLD):c.*2521G>A rs937833973
NM_001378743.1(CYLD):c.*2646G>A rs563329143
NM_001378743.1(CYLD):c.*280A>G rs1972088853
NM_001378743.1(CYLD):c.*3119del rs149875014
NM_001378743.1(CYLD):c.*3462A>G rs1972340927
NM_001378743.1(CYLD):c.*3589C>T rs1972351190
NM_001378743.1(CYLD):c.*3722T>G rs886052067
NM_001378743.1(CYLD):c.*4485G>C rs886052068
NM_001378743.1(CYLD):c.*4514C>G rs1303376683
NM_001378743.1(CYLD):c.*5327C>A rs1972483152
NM_001378743.1(CYLD):c.-124+1988A>G rs886052051
NM_001378743.1(CYLD):c.-215C>G rs1445709488
NM_001378743.1(CYLD):c.-229G>C rs886052050
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg) rs200759332
NM_001378743.1(CYLD):c.1292G>A (p.Gly431Glu) rs200494719
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile) rs775394735
NM_001378743.1(CYLD):c.922+9C>A rs528253971

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