ClinVar Miner

List of variants in gene EDNRB studied for Hirschsprung disease, susceptibility to, 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) rs5351 0.58046
NM_001122659.3(EDNRB):c.*1767C>T rs3027092 0.02325
NM_001122659.3(EDNRB):c.*1546A>G rs3027094 0.01879
NM_001122659.3(EDNRB):c.*1310C>T rs3027095 0.01448
NM_000115.5(EDNRB):c.-205G>A rs12720104 0.01434
NM_001122659.3(EDNRB):c.*903G>A rs9600947 0.01157
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000115.5(EDNRB):c.-206C>T rs12720103 0.01017
NM_000115.5(EDNRB):c.-225T>A rs142748526 0.00862
NM_000115.5(EDNRB):c.-64C>T rs140686455 0.00559
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001122659.3(EDNRB):c.*296A>G rs12720203 0.00388
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_001122659.3(EDNRB):c.*2463T>C rs139792924 0.00322
NM_000115.5(EDNRB):c.-228C>T rs144954195 0.00239
NM_001122659.3(EDNRB):c.*1412C>T rs202238915 0.00226
NM_001122659.3(EDNRB):c.*2258G>T rs186739277 0.00211
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
NM_001122659.3(EDNRB):c.*1496G>A rs143210700 0.00099
NM_001122659.3(EDNRB):c.*2167C>G rs191136728 0.00056
NM_001122659.3(EDNRB):c.*2055A>G rs12720204 0.00054
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001122659.3(EDNRB):c.*1513G>C rs200042120 0.00041
NM_000115.5(EDNRB):c.-160G>A rs538779808 0.00038
NM_001122659.3(EDNRB):c.*2165C>T rs201086847 0.00029
NM_001122659.3(EDNRB):c.*2219A>G rs200177379 0.00026
NM_001122659.3(EDNRB):c.*1481G>A rs200394800 0.00023
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001122659.3(EDNRB):c.*1600T>C rs201570543 0.00021
NM_001122659.3(EDNRB):c.*2047C>T rs199537579 0.00018
NM_001122659.3(EDNRB):c.*1662T>C rs202174312 0.00016
NM_000115.5(EDNRB):c.-161C>T rs1045550076 0.00007
NM_000115.5(EDNRB):c.-153C>T rs569770148 0.00006
NM_001122659.3(EDNRB):c.*1844A>G rs201311811 0.00006
NM_001122659.3(EDNRB):c.*2064T>G rs200431243 0.00004
NM_001122659.3(EDNRB):c.*2309T>C rs200621629 0.00004
NM_001122659.3(EDNRB):c.*2452G>A rs200266252 0.00004
NM_001122659.3(EDNRB):c.*414G>A rs750626886 0.00004
NM_001122659.3(EDNRB):c.318T>C (p.Val106=) rs200777477 0.00004
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=) rs1050929 0.00004
NM_000115.5(EDNRB):c.-52G>A rs1024731982 0.00003
NM_001122659.3(EDNRB):c.*1151T>A rs1321459235 0.00003
NM_001122659.3(EDNRB):c.*179G>A rs201848931 0.00003
NM_001122659.3(EDNRB):c.*1906G>A rs886050320 0.00003
NM_001122659.3(EDNRB):c.*2580C>T rs1033570814 0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) rs781214034 0.00003
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=) rs375637651 0.00003
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_001122659.3(EDNRB):c.*1131T>C rs142394468 0.00002
NM_001122659.3(EDNRB):c.*1474G>A rs886050322 0.00002
NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser) rs200939685 0.00002
NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu) rs200548885 0.00002
NM_000115.5(EDNRB):c.-179C>T rs1881861243 0.00001
NM_001122659.3(EDNRB):c.*1860T>G rs886050321 0.00001
NM_001122659.3(EDNRB):c.*2292A>C rs759340051 0.00001
NM_001122659.3(EDNRB):c.*575A>G rs1320252107 0.00001
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325 0.00001
NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys) rs750396591 0.00001
NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu) rs201002254 0.00001
NM_001122659.3(EDNRB):c.483+15C>T rs936183003 0.00001
NM_000115.5(EDNRB):c.-121G>T rs12720105
NM_001122659.3(EDNRB):c.*1260G>A rs886050323
NM_001122659.3(EDNRB):c.*1302G>A rs1381062477
NM_001122659.3(EDNRB):c.*1514G>T rs201845371
NM_001122659.3(EDNRB):c.*1784A>G rs1285403588
NM_001122659.3(EDNRB):c.*2041T>C rs200276436
NM_001122659.3(EDNRB):c.*2355T>C rs886050319
NM_001122659.3(EDNRB):c.*2426A>C rs886050318
NM_001122659.3(EDNRB):c.*2665T>C rs1878575169
NM_001122659.3(EDNRB):c.*585G>C rs201012049
NM_001122659.3(EDNRB):c.*781G>T rs201115297
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) rs1566302937
NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg) rs1261885036
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) rs77132068
NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter) rs104894389
NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs) rs769735757

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