List of variants in gene ESRRB studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 191

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HGVS	dbSNP	gnomAD frequency
NM_001379180.1(ESRRB):c.948T>C (p.Tyr316=)	rs2361293	0.99538
NM_001379180.1(ESRRB):c.460+64T>C	rs12432875	0.49555
NM_001379180.1(ESRRB):c.*2906T>C	rs3829784	0.43496
NM_001379180.1(ESRRB):c.578-96dup	rs11480158	0.41802
NM_001379180.1(ESRRB):c.689-79T>C	rs10134248	0.40214
NM_001379180.1(ESRRB):c.461-263A>G	rs11846902	0.37474
NM_001379180.1(ESRRB):c.461-158A>G	rs11846937	0.37402
NM_001379180.1(ESRRB):c.461-214A>G	rs58807616	0.37382
NM_001379180.1(ESRRB):c.461-116A>G	rs10137295	0.37099
NM_001379180.1(ESRRB):c.*125C>T	rs10139705	0.24400
NM_001379180.1(ESRRB):c.*2504T>C	rs3813545	0.23239
NM_001379180.1(ESRRB):c.*1107A>G	rs2361295	0.22442
NM_001379180.1(ESRRB):c.*1292A>G	rs71429960	0.10386
NM_001379180.1(ESRRB):c.460+56T>C	rs45507197	0.08374
NM_001379180.1(ESRRB):c.460+100T>C	rs45511205	0.08341
NM_001379180.1(ESRRB):c.850+190C>T	rs10147732	0.07921
NM_001379180.1(ESRRB):c.144C>A (p.Ile48=)	rs35544003	0.07261
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser)	rs61742642	0.06008
NM_001379180.1(ESRRB):c.577+21G>A	rs60031556	0.05400
NM_001379180.1(ESRRB):c.*1834G>T	rs73320344	0.04471
NM_001379180.1(ESRRB):c.*1350G>A	rs72731689	0.01852
NM_001379180.1(ESRRB):c.204G>C (p.Leu68=)	rs61744548	0.01800
NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)	rs146351534	0.01096
NM_001379180.1(ESRRB):c.51-305C>T	rs138222274	0.00977
NM_001379180.1(ESRRB):c.850+55C>T	rs113562033	0.00934
NM_001379180.1(ESRRB):c.461-249C>T	rs141826409	0.00587
NM_001379180.1(ESRRB):c.461-115C>T	rs115124424	0.00548
NM_001379180.1(ESRRB):c.*126G>A	rs571269701	0.00525
NM_001379180.1(ESRRB):c.*258C>T	rs139518978	0.00402
NM_001379180.1(ESRRB):c.1121-56C>T	rs142029415	0.00397
NM_001379180.1(ESRRB):c.*1474T>C	rs188462546	0.00354
NM_001379180.1(ESRRB):c.*1892G>A	rs185789245	0.00293
NM_001379180.1(ESRRB):c.*2382G>A	rs190764707	0.00240
NM_001379180.1(ESRRB):c.1120+8C>T	rs373429794	0.00226
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val)	rs61760172	0.00161
NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly)	rs143477571	0.00137
NM_001379180.1(ESRRB):c.1120+11C>T	rs116803435	0.00124
NM_001379180.1(ESRRB):c.*1546C>T	rs201448899	0.00088
NM_001379180.1(ESRRB):c.414G>A (p.Val138=)	rs141586518	0.00073
NM_001379180.1(ESRRB):c.577+31G>A	rs138968289	0.00073
NM_001379180.1(ESRRB):c.*1527C>T	rs370162922	0.00070
NM_001379180.1(ESRRB):c.*1517C>T	rs201726554	0.00066
NM_001379180.1(ESRRB):c.1207C>T (p.Arg403Cys)	rs373131497	0.00064
NM_001379180.1(ESRRB):c.577+45G>C	rs373306461	0.00062
NM_001379180.1(ESRRB):c.765G>A (p.Glu255=)	rs79273904	0.00058
NM_001379180.1(ESRRB):c.*1535G>A	rs200237229	0.00056
NM_001379180.1(ESRRB):c.*13C>T	rs74813924	0.00055
NM_001379180.1(ESRRB):c.1121-50A>C	rs145153597	0.00048
NM_001379180.1(ESRRB):c.688+13G>A	rs764824044	0.00046
NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn)	rs145982062	0.00046
NM_001379180.1(ESRRB):c.850+47G>A	rs372543616	0.00043
NM_001379180.1(ESRRB):c.1121-44C>T	rs370823314	0.00034
NM_001379180.1(ESRRB):c.1120+9G>A	rs377532399	0.00024
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn)	rs201344770	0.00022
NM_001379180.1(ESRRB):c.51-18C>T	rs375317408	0.00017
NM_001379180.1(ESRRB):c.1176C>T (p.His392=)	rs370193367	0.00016
NM_001379180.1(ESRRB):c.307G>C (p.Gly103Arg)	rs771967770	0.00016
NM_001379180.1(ESRRB):c.*2287G>A	rs372618689	0.00014
NM_001379180.1(ESRRB):c.726G>A (p.Pro242=)	rs370195063	0.00014
NM_001379180.1(ESRRB):c.1028G>A (p.Arg343Gln)	rs146185697	0.00013
NM_001379180.1(ESRRB):c.1229C>T (p.Thr410Met)	rs201714970	0.00013
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu)	rs546495818	0.00013
NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser)	rs771730157	0.00013
NM_001379180.1(ESRRB):c.*2334G>A	rs545818408	0.00012
NM_001379180.1(ESRRB):c.306C>T (p.Ser102=)	rs371102435	0.00012
NM_001379180.1(ESRRB):c.*1597C>A	rs762965573	0.00011
NM_001379180.1(ESRRB):c.1147G>A (p.Ala383Thr)	rs553650212	0.00011
NM_001379180.1(ESRRB):c.742A>G (p.Met248Val)	rs149642201	0.00011
NM_001379180.1(ESRRB):c.876C>T (p.Asp292=)	rs201417586	0.00011
NM_001379180.1(ESRRB):c.*7C>T	rs374018995	0.00010
NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys)	rs747893418	0.00010
NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp)	rs143118664	0.00008
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=)	rs781612689	0.00008
NM_001379180.1(ESRRB):c.*1556T>C	rs180967093	0.00007
NM_001379180.1(ESRRB):c.689-10G>A	rs534216019	0.00007
NM_001379180.1(ESRRB):c.*1534C>T	rs754534352	0.00006
NM_001379180.1(ESRRB):c.*1604G>A	rs371116651	0.00006
NM_001379180.1(ESRRB):c.483G>A (p.Pro161=)	rs778645048	0.00006
NM_001379180.1(ESRRB):c.578-9C>A	rs774884207	0.00006
NM_001379180.1(ESRRB):c.626G>A (p.Arg209Gln)	rs201691455	0.00006
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)	rs148356050	0.00006
NM_001379180.1(ESRRB):c.1120+19C>T	rs550968778	0.00005
NM_001379180.1(ESRRB):c.577+15C>T	rs765906060	0.00005
NM_001379180.1(ESRRB):c.1120+15G>A	rs754237725	0.00004
NM_001379180.1(ESRRB):c.1129T>C (p.Tyr377His)	rs760608250	0.00004
NM_001379180.1(ESRRB):c.1208G>A (p.Arg403His)	rs557399970	0.00004
NM_001379180.1(ESRRB):c.1350G>A (p.Leu450=)	rs370354103	0.00003
NM_001379180.1(ESRRB):c.621G>A (p.Lys207=)	rs758354881	0.00003
NM_001379180.1(ESRRB):c.75C>A (p.Asp25Glu)	rs1141580	0.00003
NM_001379180.1(ESRRB):c.*1502A>T	rs752675221	0.00002
NM_001379180.1(ESRRB):c.*2238G>A	rs745587744	0.00002
NM_001379180.1(ESRRB):c.184G>A (p.Ala62Thr)	rs775825368	0.00002
NM_001379180.1(ESRRB):c.623G>A (p.Arg208Gln)	rs201481591	0.00002
NM_001379180.1(ESRRB):c.625C>T (p.Arg209Trp)	rs370122804	0.00002
NM_001379180.1(ESRRB):c.*1598C>A	rs574615634	0.00001
NM_001379180.1(ESRRB):c.*43C>T	rs559078438	0.00001
NM_001379180.1(ESRRB):c.1111G>A (p.Ala371Thr)	rs748968069	0.00001
NM_001379180.1(ESRRB):c.1163A>G (p.Gln388Arg)	rs372520422	0.00001
NM_001379180.1(ESRRB):c.1268C>T (p.Thr423Met)	rs1890516621	0.00001
NM_001379180.1(ESRRB):c.229C>A (p.Leu77Met)	rs764336526	0.00001
NM_001379180.1(ESRRB):c.378G>A (p.Val126=)	rs190465039	0.00001
NM_001379180.1(ESRRB):c.538C>T (p.Arg180Cys)	rs576940797	0.00001
NM_001379180.1(ESRRB):c.850+10T>A	rs567273831	0.00001
NM_001379180.1(ESRRB):c.934C>T (p.Arg312Cys)	rs1276962033	0.00001
GRCh37/hg19 14q24.3(chr14:76931560-76977846)x3
NM_001379180.1(ESRRB):c.*1161T>G	rs4293299
NM_001379180.1(ESRRB):c.*1451C>A
NM_001379180.1(ESRRB):c.*1509C>T
NM_001379180.1(ESRRB):c.*1592G>A
NM_001379180.1(ESRRB):c.1623_1690del
NM_001379180.1(ESRRB):c.*175T>C	rs10131211
NM_001379180.1(ESRRB):c.*2140C>T	rs184082609
NM_001379180.1(ESRRB):c.*2222G>C
NM_001379180.1(ESRRB):c.*2225T>G
NM_001379180.1(ESRRB):c.*2242G>A
NM_001379180.1(ESRRB):c.*2574C>A	rs8017684
NM_001379180.1(ESRRB):c.*263C>A	rs749859734
NM_001379180.1(ESRRB):c.*8G>A
NM_001379180.1(ESRRB):c.1007C>T (p.Ala336Val)	rs764181534
NM_001379180.1(ESRRB):c.1014G>T (p.Leu338=)
NM_001379180.1(ESRRB):c.1031C>T (p.Ala344Val)
NM_001379180.1(ESRRB):c.1077G>C (p.Lys359Asn)
NM_001379180.1(ESRRB):c.1092G>A (p.Thr364=)
NM_001379180.1(ESRRB):c.1108C>T (p.Leu370Phe)
NM_001379180.1(ESRRB):c.1120+14C>A	rs372927278
NM_001379180.1(ESRRB):c.1121-17C>T
NM_001379180.1(ESRRB):c.1121-265_1121-264insCA	rs147576418
NM_001379180.1(ESRRB):c.112A>C (p.Lys38Gln)
NM_001379180.1(ESRRB):c.1134C>T (p.Ile378=)
NM_001379180.1(ESRRB):c.1138G>C (p.Asp380His)	rs765737772
NM_001379180.1(ESRRB):c.1141C>T (p.Leu381=)
NM_001379180.1(ESRRB):c.1171C>G (p.Leu391Val)
NM_001379180.1(ESRRB):c.1176C>A (p.His392Gln)
NM_001379180.1(ESRRB):c.1177G>C (p.Glu393Gln)
NM_001379180.1(ESRRB):c.1245G>A (p.Leu415=)	rs1456658955
NM_001379180.1(ESRRB):c.1248A>G (p.Thr416=)
NM_001379180.1(ESRRB):c.1257G>A (p.Leu419=)
NM_001379180.1(ESRRB):c.1261C>A (p.Arg421=)	rs948871827
NM_001379180.1(ESRRB):c.1272C>T (p.Ala424=)
NM_001379180.1(ESRRB):c.138G>A (p.Ser46=)
NM_001379180.1(ESRRB):c.220G>A (p.Ala74Thr)
NM_001379180.1(ESRRB):c.225C>T (p.Asn75=)
NM_001379180.1(ESRRB):c.237G>A (p.Ser79=)
NM_001379180.1(ESRRB):c.278G>A (p.Cys93Tyr)
NM_001379180.1(ESRRB):c.322T>G (p.Ser108Ala)
NM_001379180.1(ESRRB):c.340T>C (p.Tyr114His)
NM_001379180.1(ESRRB):c.376G>T (p.Val126Leu)
NM_001379180.1(ESRRB):c.411C>T (p.Gly137=)
NM_001379180.1(ESRRB):c.417C>T (p.Ala139=)
NM_001379180.1(ESRRB):c.461-112G>A	rs57898283
NM_001379180.1(ESRRB):c.461-12G>A
NM_001379180.1(ESRRB):c.461-19T>C
NM_001379180.1(ESRRB):c.482C>T (p.Pro161Leu)
NM_001379180.1(ESRRB):c.498C>A (p.Cys166Ter)
NM_001379180.1(ESRRB):c.498C>T (p.Cys166=)
NM_001379180.1(ESRRB):c.517C>T (p.Arg173Cys)
NM_001379180.1(ESRRB):c.536G>A (p.Cys179Tyr)
NM_001379180.1(ESRRB):c.539G>A (p.Arg180His)
NM_001379180.1(ESRRB):c.558A>G (p.Lys186=)
NM_001379180.1(ESRRB):c.577+2T>C
NM_001379180.1(ESRRB):c.578-7C>A
NM_001379180.1(ESRRB):c.583C>T (p.Arg195Cys)	rs138510486
NM_001379180.1(ESRRB):c.598C>T (p.Arg200Cys)
NM_001379180.1(ESRRB):c.599G>T (p.Arg200Leu)
NM_001379180.1(ESRRB):c.654G>T (p.Leu218=)
NM_001379180.1(ESRRB):c.684G>A (p.Lys228=)
NM_001379180.1(ESRRB):c.688+17T>C	rs1444635768
NM_001379180.1(ESRRB):c.688+19C>T
NM_001379180.1(ESRRB):c.688+1G>A
NM_001379180.1(ESRRB):c.735C>A (p.Leu245=)
NM_001379180.1(ESRRB):c.738T>G (p.Tyr246Ter)
NM_001379180.1(ESRRB):c.756T>G (p.Gly252=)
NM_001379180.1(ESRRB):c.795T>C (p.Cys265=)
NM_001379180.1(ESRRB):c.809G>A (p.Arg270Gln)
NM_001379180.1(ESRRB):c.815T>A (p.Leu272His)
NM_001379180.1(ESRRB):c.823A>G (p.Ile275Val)
NM_001379180.1(ESRRB):c.850+9G>A
NM_001379180.1(ESRRB):c.851-14C>A
NM_001379180.1(ESRRB):c.851-14C>T
NM_001379180.1(ESRRB):c.851-2A>T
NM_001379180.1(ESRRB):c.851-45G>C	rs2361292
NM_001379180.1(ESRRB):c.884G>C (p.Ser295Thr)	rs2140050235
NM_001379180.1(ESRRB):c.919C>T (p.Leu307=)
NM_001379180.1(ESRRB):c.923dup (p.Ile309fs)
NM_001379180.1(ESRRB):c.926T>C (p.Ile309Thr)
NM_001379180.1(ESRRB):c.933C>A (p.Tyr311Ter)
NM_001379180.1(ESRRB):c.938C>T (p.Ser313Leu)
NM_001379180.1(ESRRB):c.939G>A (p.Ser313=)
NM_001379180.1(ESRRB):c.948_949inv (p.Asp317Asn)
NM_001379180.1(ESRRB):c.961G>A (p.Val321Met)
NM_001379180.1(ESRRB):c.990G>A (p.Glu330=)

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