ClinVar Miner

List of variants in gene ESRRB reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 52
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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.144C>A (p.Ile48=) rs35544003 0.07261
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
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.*1474T>C rs188462546 0.00354
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.*1517C>T rs201726554 0.00066
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.949G>A (p.Asp317Asn) rs145982062 0.00046
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_001379180.1(ESRRB):c.1176C>T (p.His392=) rs370193367 0.00016
NM_001379180.1(ESRRB):c.726G>A (p.Pro242=) rs370195063 0.00014
NM_001379180.1(ESRRB):c.1229C>T (p.Thr410Met) rs201714970 0.00013
NM_001379180.1(ESRRB):c.1147G>A (p.Ala383Thr) rs553650212 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.177G>A (p.Ser59=) rs781612689 0.00008
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) rs528723972 0.00008
NM_001379180.1(ESRRB):c.689-10G>A rs534216019 0.00007
NM_001379180.1(ESRRB):c.483G>A (p.Pro161=) rs778645048 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+15G>A rs754237725 0.00004
NM_001379180.1(ESRRB):c.460+4C>T rs727503040 0.00004
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001379180.1(ESRRB):c.492C>T (p.Asn164=) rs370878277 0.00002
NM_001379180.1(ESRRB):c.*1550C>A rs772147649 0.00001
NM_001379180.1(ESRRB):c.1006G>A (p.Ala336Thr) rs876657463 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.*1402C>A rs1595180187
NM_001379180.1(ESRRB):c.*1559A>G rs776268469
NM_001379180.1(ESRRB):c.*2241dup rs1555345959
NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs) rs1555344820
NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) rs876657643
NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter) rs727503041
NM_001379180.1(ESRRB):c.1259del (p.Leu420fs) rs876657807
NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs) rs727504577
NM_001379180.1(ESRRB):c.312C>A (p.Ile104=) rs1555397494
NM_001379180.1(ESRRB):c.460+5G>A rs876657808
NM_001379180.1(ESRRB):c.533C>T (p.Ala178Val) rs1368040979
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) rs886050806
NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter) rs202023138
NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)

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