ClinVar Miner

List of variants in gene ELN reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1414+24C>T rs28763986 0.60222
NM_000501.4(ELN):c.1150+70C>T rs2239691 0.30053
NM_000501.4(ELN):c.1786+306G>A rs12535378 0.17308
NM_000501.4(ELN):c.2132-286A>G rs11760714 0.11850
NM_000501.4(ELN):c.2087-34C>T rs3757587 0.11783
NM_000501.4(ELN):c.2086+242G>A rs10949834 0.11488
NM_000501.4(ELN):c.197-270T>C rs3815251 0.11372
NM_000501.4(ELN):c.197-162G>A rs2286257 0.11360
NM_000501.4(ELN):c.196+71G>A rs2301995 0.11282
NM_000501.4(ELN):c.196+194G>A rs2301994 0.11280
NM_000501.4(ELN):c.133+102G>A rs17146001 0.10934
NM_000501.4(ELN):c.1414+180A>G rs55768931 0.09192
NM_000501.4(ELN):c.2087-257G>A rs2528794 0.08449
NM_000501.4(ELN):c.233-94G>A rs13239907 0.08424
NM_000501.4(ELN):c.326-59G>A rs28763981 0.04086
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_000501.4(ELN):c.427+92G>C rs2528796 0.02719
NM_000501.4(ELN):c.470-25C>T rs28424575 0.02472
NM_000501.4(ELN):c.1787-260C>T rs56004656 0.02032
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
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.921A>G (p.Ala307=) rs6979788 0.00327
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.1414+20G>A rs200995478 0.00010
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.1097-231dup rs113505500
NM_000501.4(ELN):c.1151-172del rs201973900
NM_000501.4(ELN):c.1994-280C>A rs147817720
NM_000501.4(ELN):c.233-174dup rs141916734

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