ClinVar Miner

List of variants in gene ELP1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_003640.5(ELP1):c.1224G>A (p.Val408=) rs151157900
NM_003640.5(ELP1):c.1656G>A (p.Ala552=) rs200535861
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=) rs781623768
NM_003640.5(ELP1):c.304-5C>T rs370384351
NM_003640.5(ELP1):c.3573-7C>G rs370571926
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.650-7C>T rs368410371
NM_003640.5(ELP1):c.865-9C>T rs748084965
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889

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.