ClinVar Miner

List of variants in gene ERLIN1 reported as likely benign for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006459.4(ERLIN1):c.*213A>G rs3802528 0.02723
NM_006459.4(ERLIN1):c.114-17G>A rs201392792 0.00056
NM_006459.4(ERLIN1):c.276A>G (p.Glu92=) rs139168020 0.00020
NM_006459.4(ERLIN1):c.762C>A (p.Ala254=) rs143495333 0.00013
NM_006459.4(ERLIN1):c.588T>C (p.Leu196=) rs142222778 0.00006
NM_006459.4(ERLIN1):c.966A>G (p.Gly322=) rs377025416 0.00006
NM_006459.4(ERLIN1):c.195+11C>G rs769811237 0.00004
NM_006459.4(ERLIN1):c.315C>T (p.Ile105=) rs373926474 0.00004
NM_006459.4(ERLIN1):c.430+16C>G rs1240077501 0.00003
NM_006459.4(ERLIN1):c.741C>T (p.Ile247=) rs543960752 0.00003
NM_006459.4(ERLIN1):c.504+13C>T rs1474417603 0.00002
NM_006459.4(ERLIN1):c.745+10G>C rs1371863956 0.00002
NM_006459.4(ERLIN1):c.114-19T>A rs370929588 0.00001
NM_006459.4(ERLIN1):c.177T>C (p.Thr59=) rs770027728 0.00001
NM_006459.4(ERLIN1):c.243-17T>C rs764296818 0.00001
NM_006459.4(ERLIN1):c.450G>C (p.Leu150=) rs767470324 0.00001
NM_006459.4(ERLIN1):c.678G>C (p.Val226=) rs762266742 0.00001
NM_006459.4(ERLIN1):c.789A>G (p.Glu263=) rs759786446 0.00001
NM_006459.4(ERLIN1):c.813C>T (p.Ala271=) rs747050921 0.00001
NM_006459.4(ERLIN1):c.1026A>G (p.Gln342=)
NM_006459.4(ERLIN1):c.113+14G>T
NM_006459.4(ERLIN1):c.113+16A>G
NM_006459.4(ERLIN1):c.113+20A>G
NM_006459.4(ERLIN1):c.114-16A>G
NM_006459.4(ERLIN1):c.196-4C>G
NM_006459.4(ERLIN1):c.198A>G (p.Thr66=)
NM_006459.4(ERLIN1):c.207A>G (p.Gln69=)
NM_006459.4(ERLIN1):c.225T>C (p.Asn75=)
NM_006459.4(ERLIN1):c.237A>T (p.Gly79=)
NM_006459.4(ERLIN1):c.242+20A>G rs1405477765
NM_006459.4(ERLIN1):c.243-5T>C
NM_006459.4(ERLIN1):c.27G>C (p.Leu9=)
NM_006459.4(ERLIN1):c.372T>C (p.His124=)
NM_006459.4(ERLIN1):c.430+15T>C
NM_006459.4(ERLIN1):c.430+20T>C
NM_006459.4(ERLIN1):c.431-13G>C
NM_006459.4(ERLIN1):c.480C>A (p.Leu160=)
NM_006459.4(ERLIN1):c.504+8C>A
NM_006459.4(ERLIN1):c.564-20T>C
NM_006459.4(ERLIN1):c.564-20_564-18del rs2134127478
NM_006459.4(ERLIN1):c.60G>C (p.Leu20=)
NM_006459.4(ERLIN1):c.655+17G>A
NM_006459.4(ERLIN1):c.669T>C (p.Ile223=)
NM_006459.4(ERLIN1):c.72C>T (p.Ser24=)
NM_006459.4(ERLIN1):c.745+18G>A
NM_006459.4(ERLIN1):c.746-9A>G
NM_006459.4(ERLIN1):c.774G>A (p.Ala258=)
NM_006459.4(ERLIN1):c.810T>C (p.Tyr270=)
NM_006459.4(ERLIN1):c.816C>T (p.Thr272=)
NM_006459.4(ERLIN1):c.825+8G>A
NM_006459.4(ERLIN1):c.826-10T>C
NM_006459.4(ERLIN1):c.826-7del
NM_006459.4(ERLIN1):c.840G>A (p.Pro280=)
NM_006459.4(ERLIN1):c.855C>G (p.Leu285=)

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.