ClinVar Miner

List of variants in gene ELN studied for not specified

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Gene type:
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Total variants: 68
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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.493G>T (p.Val165Leu) rs61734581 0.00472
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.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.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000501.4(ELN):c.326-20C>T rs200397639 0.00066
NM_000501.4(ELN):c.1414+19C>T rs201440090 0.00025
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
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.1339G>A (p.Ala447Thr) rs139335797 0.00013
NM_000501.4(ELN):c.196+18G>A rs374473857 0.00012
NM_000501.4(ELN):c.1357+9C>A rs372800803 0.00011
NM_000501.4(ELN):c.1149C>T (p.Tyr383=) rs199621188 0.00010
NM_000501.4(ELN):c.1414+20G>A rs200995478 0.00010
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344 0.00008
NM_000501.4(ELN):c.644-8C>T rs201859539 0.00008
NM_000501.4(ELN):c.1150+1G>A rs727503030 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.1951G>A (p.Gly651Arg) rs34852121 0.00004
NM_000501.4(ELN):c.2067C>T (p.Ala689=) rs782657493 0.00004
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839 0.00004
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg) rs372889752 0.00003
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.133+6G>A rs1216357938 0.00002
NM_000501.4(ELN):c.1233C>T (p.Val411=) rs202052596 0.00001
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.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000501.4(ELN):c.1956C>T (p.Val652=) rs1469217967 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[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[17] rs10579871
NM_000501.4(ELN):c.1150+20C>G rs1554678579
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
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.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.133+16C>T rs144223231
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000501.4(ELN):c.1414+11dup rs782491657
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.1489_1506del (p.Leu497_Gly502del) rs782393234
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.1734T>C (p.Pro578=) rs561258201
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1918+3G>A
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3]) rs374813147
NM_000501.4(ELN):c.469+5G>C rs727503025
NM_000501.4(ELN):c.685+1_685+5dup rs876657806

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