ClinVar Miner

List of variants studied for Brooke-Spiegler syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.2469+26A>G rs2302759 0.84878
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 0.05387
NM_001378743.1(CYLD):c.*841G>A rs117537927 0.02289
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 0.00707
NM_001378743.1(CYLD):c.*1831G>A rs181246559 0.00599
NM_001378743.1(CYLD):c.*3469T>C rs111951225 0.00586
NM_001378743.1(CYLD):c.*1575G>A rs184344245 0.00532
NM_001378743.1(CYLD):c.*1341T>G rs140767609 0.00470
NM_001378743.1(CYLD):c.*3070A>G rs144667145 0.00435
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 0.00210
NM_001378743.1(CYLD):c.*698T>G rs541975303 0.00179
NM_001378743.1(CYLD):c.*3148T>C rs555603514 0.00118
NM_001378743.1(CYLD):c.*4388C>T rs781004605 0.00071
NM_001378743.1(CYLD):c.*3736G>A rs567662515 0.00058
NM_001378743.1(CYLD):c.*2615A>G rs181056407 0.00042
NM_001378743.1(CYLD):c.126G>A (p.Pro42=) rs202119806 0.00037
NM_001378743.1(CYLD):c.*1810A>T rs886052058 0.00030
NM_001378743.1(CYLD):c.*4947G>A rs567438576 0.00026
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.*382T>C rs142580891 0.00017
NM_001378743.1(CYLD):c.*2556A>G rs747682326 0.00016
NM_001378743.1(CYLD):c.913+5G>T rs200435608 0.00014
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.*5086A>G rs572929759 0.00010
NM_001378743.1(CYLD):c.2469+10C>T rs374473837 0.00010
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.665C>A (p.Thr222Lys) rs587778225 0.00007
NM_015247.2(CYLD):c.-414T>C rs534146333 0.00007
NM_001378743.1(CYLD):c.*3151T>G rs759858517 0.00006
NM_001378743.1(CYLD):c.*2305A>T rs559634329 0.00005
NM_001378743.1(CYLD):c.*5060G>T rs888172609 0.00005
NM_001378743.1(CYLD):c.*1102G>A rs141088048 0.00004
NM_001378743.1(CYLD):c.*3384G>A rs886052066 0.00004
NM_001378743.1(CYLD):c.*3679T>C rs141888517 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.59T>G (p.Ile20Ser) rs764097337 0.00004
NM_001378743.1(CYLD):c.*1667G>T rs750022206 0.00003
NM_001378743.1(CYLD):c.*3229C>T rs752862278 0.00003
NM_001378743.1(CYLD):c.*3305A>G rs886052065 0.00003
NM_001378743.1(CYLD):c.*403T>C rs886052052 0.00003
NM_001378743.1(CYLD):c.*5384A>G rs886052072 0.00003
NM_001378743.1(CYLD):c.543C>T (p.Tyr181=) rs752294416 0.00003
NM_001378743.1(CYLD):c.*1245T>C rs192470603 0.00002
NM_001378743.1(CYLD):c.*3000C>G rs886052063 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.*206A>C rs1406870242 0.00001
NM_001378743.1(CYLD):c.*2113A>G rs1972238592 0.00001
NM_001378743.1(CYLD):c.*2424C>T rs1972268579 0.00001
NM_001378743.1(CYLD):c.*2975C>T rs886052062 0.00001
NM_001378743.1(CYLD):c.*3865C>T rs1281354923 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.-23A>C rs771486432 0.00001
NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr) rs138976689 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.170A>G (p.His57Arg) rs767537235 0.00001
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_001378743.1(CYLD):c.2319G>A (p.Leu773=) rs199912760 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.*1983T>C rs867027657
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.*2147T>G rs1323064285
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.*2848A>G rs1972303099
NM_001378743.1(CYLD):c.*29T>C rs1972065736
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.*4530G>T rs748716852
NM_001378743.1(CYLD):c.*4841G>A rs886052071
NM_001378743.1(CYLD):c.*5272C>T rs140875917
NM_001378743.1(CYLD):c.*5327C>A rs1972483152
NM_001378743.1(CYLD):c.*779G>A rs190787930
NM_001378743.1(CYLD):c.*831C>T rs144877731
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.1112C>A (p.Ser371Ter) rs886040872
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.1327C>T (p.Gln443Ter) rs764952788
NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter) rs886040873
NM_001378743.1(CYLD):c.1392dup (p.Gly465fs) rs1597052041
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs) rs886040874
NM_001378743.1(CYLD):c.1599dup (p.Val534fs) rs886040875
NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs) rs886040876
NM_001378743.1(CYLD):c.1684+3A>C rs886040878
NM_001378743.1(CYLD):c.1684G>C (p.Ala562Pro) rs886040877
NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter) rs886040879
NM_001378743.1(CYLD):c.1778G>A (p.Gly593Asp) rs886040880
NM_001378743.1(CYLD):c.1826+2T>G rs1597058708
NM_001378743.1(CYLD):c.1950-1_1952del rs2151015263
NM_001378743.1(CYLD):c.1950-2_1953del rs886040882
NM_001378743.1(CYLD):c.1950-5_1950-2del rs886040881
NM_001378743.1(CYLD):c.2041G>C (p.Asp681His) rs886040883
NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys) rs886040884
NM_001378743.1(CYLD):c.2138_2139dup (p.Phe714fs) rs886040885
NM_001378743.1(CYLD):c.2172del (p.Val725fs)
NM_001378743.1(CYLD):c.2240A>G (p.Glu747Gly) rs121908389
NM_001378743.1(CYLD):c.2240_2241del (p.Glu747fs) rs1597085967
NM_001378743.1(CYLD):c.2241+5G>A rs1971445448
NM_001378743.1(CYLD):c.2242-2A>G rs886040886
NM_001378743.1(CYLD):c.2252del (p.Cys751fs) rs1597088499
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs) rs886040887
NM_001378743.1(CYLD):c.2342T>C (p.Leu781Pro) rs886040889
NM_001378743.1(CYLD):c.2350+1G>T rs886040890
NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) rs886040891
NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) rs886040892
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile) rs775394735
NM_001378743.1(CYLD):c.2469+1G>A rs1597091470
NM_001378743.1(CYLD):c.2515del (p.Ser839fs) rs886040893
NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter) rs886040894
NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)
NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001378743.1(CYLD):c.561dup (p.Gln188fs) rs1596971597
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs) rs886040868
NM_001378743.1(CYLD):c.911dup (p.Ala305fs) rs886040869
NM_001378743.1(CYLD):c.922+9C>A rs528253971
NM_001378743.1(CYLD):c.968_977del (p.Ser323fs) rs886040870
NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs) rs886040871

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