ClinVar Miner

List of variants in gene ELN reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000501.4(ELN):c.326-20C>T rs200397639 0.00066
NM_000501.4(ELN):c.1358-225T>C rs375867140 0.00036
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
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.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_000501.4(ELN):c.1747+83C>T rs191593990 0.00021
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_000501.4(ELN):c.381G>A (p.Ala127=) rs148216123 0.00019
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797 0.00013
NM_000501.4(ELN):c.1357+9C>A rs372800803 0.00011
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000501.4(ELN):c.1590C>T (p.Ser530=) rs782526296 0.00006
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu) rs139547471 0.00006
NM_000501.4(ELN):c.483C>T (p.Pro161=) rs150690195 0.00006
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000501.4(ELN):c.18G>A (p.Ala6=) rs542540015 0.00004
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr) rs782535492 0.00003
NM_000501.4(ELN):c.113C>G (p.Pro38Arg) rs781951450 0.00002
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg) rs200862792 0.00002
NM_000501.4(ELN):c.1747+21C>T rs782679593 0.00002
NM_000501.4(ELN):c.1622-6C>T rs1280128851 0.00001
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser) rs781904032 0.00001
NM_000501.4(ELN):c.233-4G>A rs782410717 0.00001
NM_000501.4(ELN):c.1083T>C (p.Gly361=)
NM_000501.4(ELN):c.1189T>C (p.Tyr397His)
NM_000501.4(ELN):c.1192G>C (p.Gly398Arg)
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.134-5C>G rs202142516
NM_000501.4(ELN):c.1358-176G>A
NM_000501.4(ELN):c.1389A>G (p.Lys463=)
NM_000501.4(ELN):c.1415-21C>T
NM_000501.4(ELN):c.1495C>G (p.Pro499Ala)
NM_000501.4(ELN):c.1501G>A (p.Val501Ile)
NM_000501.4(ELN):c.15G>A (p.Thr5=)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1697del (p.Ala566fs)
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
NM_000501.4(ELN):c.1834G>C (p.Val612Leu)
NM_000501.4(ELN):c.1859-2A>T
NM_000501.4(ELN):c.1876G>C (p.Ala626Pro)
NM_000501.4(ELN):c.1909G>T (p.Ala637Ser) rs536177240
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1993+8T>C
NM_000501.4(ELN):c.2013C>A (p.Ala671=)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.2070dup (p.Gln691fs)
NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
NM_000501.4(ELN):c.233-8C>T
NM_000501.4(ELN):c.252A>C (p.Ala84=)
NM_000501.4(ELN):c.27G>A (p.Pro9=)
NM_000501.4(ELN):c.294C>T (p.Asp98=)
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.377-14C>T
NM_000501.4(ELN):c.416G>A (p.Gly139Glu)
NM_000501.4(ELN):c.470-6C>T
NM_000501.4(ELN):c.53T>C (p.Leu18Pro)
NM_000501.4(ELN):c.576T>G (p.Val192=)
NM_000501.4(ELN):c.612G>A (p.Leu204=)
NM_000501.4(ELN):c.684T>A (p.Tyr228Ter)
NM_000501.4(ELN):c.752G>A (p.Gly251Asp)
NM_000501.4(ELN):c.800-1G>A rs2131847938
NM_000501.4(ELN):c.949+9C>T

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