ClinVar Miner

List of variants in gene ELP1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003640.5(ELP1):c.1461-1G>A rs539544212 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.2860+2T>C rs754348901 0.00001
NM_003640.5(ELP1):c.2958+1G>A rs1239081703 0.00001
NM_003640.5(ELP1):c.3161-2A>G rs749548287 0.00001
NM_003640.5(ELP1):c.3572+1G>A rs571348995 0.00001
NM_003640.5(ELP1):c.552+1G>T rs765572951 0.00001
NC_000009.11:g.(?_111662092)_(111663971_?)dup
NC_000009.12:g.(?_108869105)_(108903679_?)del
NC_000009.12:g.(?_108869115)_(108901681_?)del
NM_003640.5(ELP1):c.1190-1G>C rs2132014128
NM_003640.5(ELP1):c.1190-2A>G rs2132014132
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.1460+1G>A rs1564093439
NM_003640.5(ELP1):c.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-2A>C
NM_003640.5(ELP1):c.1643+1G>A
NM_003640.5(ELP1):c.1643+2T>C
NM_003640.5(ELP1):c.1644-1G>T rs1451406050
NM_003640.5(ELP1):c.1644-2A>C rs1413906605
NM_003640.5(ELP1):c.1750+1G>A rs770668926
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1908+1G>A
NM_003640.5(ELP1):c.1909-2A>C rs2131992124
NM_003640.5(ELP1):c.2015-2A>G rs1828729991
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2501+1G>A rs2131981589
NM_003640.5(ELP1):c.2501+2T>C
NM_003640.5(ELP1):c.2587+2T>G rs1554695299
NM_003640.5(ELP1):c.2588-2A>G
NM_003640.5(ELP1):c.2736+1G>A
NM_003640.5(ELP1):c.2736+1G>C
NM_003640.5(ELP1):c.2860+1G>A
NM_003640.5(ELP1):c.2860+1G>C
NM_003640.5(ELP1):c.2860+1_2860+7del rs2131975101
NM_003640.5(ELP1):c.2860_2860+1delinsTA
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.303+1G>A
NM_003640.5(ELP1):c.304-2A>C
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3160+1G>T rs2131969608
NM_003640.5(ELP1):c.3285+1G>C rs1287123881
NM_003640.5(ELP1):c.3285+2T>C rs1554692181
NM_003640.5(ELP1):c.3286-1G>A
NM_003640.5(ELP1):c.3286-1G>C
NM_003640.5(ELP1):c.3286-1G>T rs1159691474
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3460+1G>A rs1478450302
NM_003640.5(ELP1):c.3461-2A>G
NM_003640.5(ELP1):c.3573-1G>A rs2118936334
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.3701-2A>G
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.3855+1G>T rs1827764134
NM_003640.5(ELP1):c.3855+2T>G rs2118933859
NM_003640.5(ELP1):c.3856-1G>A
NM_003640.5(ELP1):c.466+2T>G
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.553-1G>A
NM_003640.5(ELP1):c.649+1G>A rs1564102412
NM_003640.5(ELP1):c.741-2A>C
NM_003640.5(ELP1):c.954_958+7del rs2132025021
NM_003640.5(ELP1):c.958+1G>A
NM_003640.5(ELP1):c.959-1G>A rs2132017099
NM_003640.5(ELP1):c.959-2A>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.