ClinVar Miner

List of variants in gene ELN reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.427+203G>A rs28763982 0.03082
NM_000501.4(ELN):c.233-296C>G rs2856729 0.02721
NM_000501.4(ELN):c.1747+154C>T rs56240724 0.02044
NM_000501.4(ELN):c.1097-133T>C rs28763985 0.00848
NM_000501.4(ELN):c.1994-102C>T rs149934293 0.00792
NM_000501.4(ELN):c.2132-64C>T rs41400848 0.00783
NM_000501.4(ELN):c.470-295C>T rs138584317 0.00628
NM_000501.4(ELN):c.82+169C>A rs143319334 0.00624
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_000501.4(ELN):c.1747+277G>A rs56075552 0.00393
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000501.4(ELN):c.1358-336C>T rs74645021 0.00344
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_000501.4(ELN):c.1786+98C>T rs139064428 0.00314
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala) rs144341345 0.00297
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_000501.4(ELN):c.1858+20G>A rs200965648 0.00270
NM_000501.4(ELN):c.428-291T>A rs140603993 0.00259
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_000501.4(ELN):c.1358-253G>A rs370619098 0.00136
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_000501.4(ELN):c.1358-268A>G rs374066807 0.00102
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_000501.4(ELN):c.326-20C>T rs200397639 0.00066
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814 0.00032
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.1747+109A>G rs782414975 0.00029
NM_000501.4(ELN):c.1747+82C>A rs186744935 0.00029
NM_000501.4(ELN):c.1414+19C>T rs201440090 0.00025
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_000501.4(ELN):c.1747+83C>T rs191593990 0.00021
NM_000501.4(ELN):c.949+14G>A rs200929398 0.00019
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_000501.4(ELN):c.196+18G>A rs374473857 0.00012
NM_000501.4(ELN):c.1358-209C>T rs569004868 0.00011
NM_000501.4(ELN):c.717G>A (p.Ala239=) rs782502253 0.00011
NM_000501.4(ELN):c.1149C>T (p.Tyr383=) rs199621188 0.00010
NM_000501.4(ELN):c.644-8C>T rs201859539 0.00008
NM_000501.4(ELN):c.1322C>T (p.Ala441Val) rs200444292 0.00006
NM_000501.4(ELN):c.1590C>T (p.Ser530=) rs782526296 0.00006
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525 0.00006
NM_000501.4(ELN):c.1875C>T (p.Ala625=) rs782752342 0.00006
NM_000501.4(ELN):c.483C>T (p.Pro161=) rs150690195 0.00006
NM_000501.4(ELN):c.1287C>T (p.Val429=) rs200666061 0.00004
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415 0.00004
NM_000501.4(ELN):c.1872C>T (p.Ala624=) rs781807182 0.00004
NM_000501.4(ELN):c.2067C>T (p.Ala689=) rs782657493 0.00004
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.414T>C (p.Pro138=) rs782230185 0.00004
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839 0.00004
NM_000501.4(ELN):c.643+16G>A rs199662424 0.00004
NM_000501.4(ELN):c.134-6C>A rs368904789 0.00003
NM_000501.4(ELN):c.1914G>A (p.Gln638=) rs782650847 0.00003
NM_000501.4(ELN):c.1994-13C>T rs532271061 0.00003
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_000501.4(ELN):c.1622-14C>T rs782637446 0.00002
NM_000501.4(ELN):c.686-17G>A rs149812011 0.00002
NM_000501.4(ELN):c.1316-12G>A rs782357759 0.00001
NM_000501.4(ELN):c.133+5C>T rs375144839 0.00001
NM_000501.4(ELN):c.134-14C>T rs782028490 0.00001
NM_000501.4(ELN):c.1358-152C>A rs1337377263 0.00001
NM_000501.4(ELN):c.1506C>T (p.Gly502=) rs533649697 0.00001
NM_000501.4(ELN):c.1747+92A>C rs782216165 0.00001
NM_000501.4(ELN):c.1818C>T (p.Leu606=) rs782335749 0.00001
NM_000501.4(ELN):c.1956C>T (p.Val652=) rs1469217967 0.00001
NM_000501.4(ELN):c.233-4G>A rs782410717 0.00001
NM_000501.4(ELN):c.6G>A (p.Ala2=) rs782540463 0.00001
NM_000501.4(ELN):c.774G>A (p.Ala258=) rs781921056 0.00001
NM_000501.3(ELN):c.-37G>C rs782267385
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1150+188C>T rs148846464
NM_000501.4(ELN):c.1150+20C>G rs1554678579
NM_000501.4(ELN):c.1151-8C>T rs1583903771
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+16C>T rs144223231
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.1414+11dup rs782491657
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1]) rs782202364
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del) rs1563852165
NM_000501.4(ELN):c.1576+37G>A rs373452625
NM_000501.4(ELN):c.1734T>C (p.Pro578=) rs561258201
NM_000501.4(ELN):c.1787-11T>A rs782431386
NM_000501.4(ELN):c.1918+31CCAGGCCC[3] rs540594780
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3]) rs374813147
NM_000501.4(ELN):c.1994-12T>C rs1554688639
NM_000501.4(ELN):c.376+17C>T rs1298971172
NM_000501.4(ELN):c.376+5G>A rs782770862
NM_000501.4(ELN):c.950-275AGAA[5] rs542395457
NM_000501.4(ELN):c.950-291AG[8] rs782502952

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