ClinVar Miner

List of variants in gene ELN reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 63
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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.1622-13C>T rs41362346 0.00728
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581 0.00472
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
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.1566T>A (p.Gly522=) rs61734584 0.00283
NM_000501.4(ELN):c.1858+20G>A rs200965648 0.00270
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_000501.4(ELN):c.469+14G>A rs41347751 0.00103
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.1232T>G (p.Val411Gly) rs200180992 0.00073
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.470-10C>G rs200663056 0.00053
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_000501.4(ELN):c.1621+12G>A rs200937895 0.00046
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
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.1747+83C>T rs191593990 0.00021
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.1358-236G>A rs529133775 0.00013
NM_000501.4(ELN):c.1414+20G>A rs200995478 0.00010
NM_000501.4(ELN):c.1918+19T>G rs557259683 0.00009
NM_000501.4(ELN):c.644-8C>T rs201859539 0.00008
NM_000501.4(ELN):c.133+11T>C rs28763980 0.00007
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.643+16G>A rs199662424 0.00004
NM_000501.4(ELN):c.1404C>T (p.Ala468=) rs189952915 0.00003
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_000501.4(ELN):c.686-17G>A rs149812011 0.00002
NM_000501.4(ELN):c.1747+80C>T rs369548102 0.00001
NM_000501.4(ELN):c.233-4G>A rs782410717 0.00001
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[17] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000501.4(ELN):c.134-5dup
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del) rs1563852165
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1748-20C>T
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.949+8_949+19del

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