ClinVar Miner

List of variants reported as likely benign for amyotrophic lateral sclerosis type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_004082.4(DCTN1):c.1251C>T (p.Ser417=) rs1553465163
NM_004082.4(DCTN1):c.2205T>G (p.Leu735=) rs773099597
NM_004082.4(DCTN1):c.2217T>G (p.Pro739=) rs1553464448
NM_004082.4(DCTN1):c.2238G>A (p.Leu746=) rs1553464441
NM_004082.4(DCTN1):c.2254-10A>G rs954787850
NM_004082.4(DCTN1):c.2254-5C>T rs746514094
NM_004082.4(DCTN1):c.2544T>C (p.Ala848=) rs1371265373
NM_004082.4(DCTN1):c.288A>G (p.Val96=) rs1553466396
NM_004082.4(DCTN1):c.2952C>G (p.Ala984=) rs371241720
NM_004082.4(DCTN1):c.3069C>T (p.Ile1023=) rs780292959
NM_004082.4(DCTN1):c.3132G>C (p.Thr1044=) rs375157202
NM_004082.4(DCTN1):c.3312C>T (p.Ile1104=) rs777452161
NM_004082.4(DCTN1):c.3597C>T (p.Val1199=) rs767954436
NM_004082.4(DCTN1):c.42C>T (p.Ser14=) rs535554555
NM_004082.4(DCTN1):c.654G>A (p.Glu218=) rs758731839
NM_004082.4(DCTN1):c.759C>T (p.Ile253=) rs1553465355
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453

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.