ClinVar Miner

List of variants in gene ATL1 reported as benign for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_015915.5(ATL1):c.1119+149T>G rs6572678 0.48687
NM_015915.5(ATL1):c.863-54A>G rs11157759 0.45951
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_015915.5(ATL1):c.630+7G>A rs3759588 0.17660
NM_015915.5(ATL1):c.705C>T (p.Phe235=) rs35044504 0.02457
NM_015915.5(ATL1):c.35-14G>A rs115722924 0.00906
NM_015915.5(ATL1):c.*621G>A rs1060183 0.00821
NM_015915.5(ATL1):c.693T>C (p.Gly231=) rs139720661 0.00790
NM_015915.5(ATL1):c.*305T>C rs2291674 0.00541
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_015915.5(ATL1):c.*475G>A rs111734056 0.00281
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_015915.5(ATL1):c.*392C>A rs138209522 0.00214
NM_015915.5(ATL1):c.*450A>G rs183817549 0.00065
NM_015915.5(ATL1):c.1200G>A (p.Lys400=) rs144792471 0.00060
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_015915.5(ATL1):c.631-7T>A rs186528086 0.00056
NM_015915.5(ATL1):c.408T>C (p.Asp136=) rs76375909 0.00041
NM_015915.5(ATL1):c.1329T>C (p.His443=) rs146164574 0.00032
NM_015915.5(ATL1):c.991-6T>G rs192428744 0.00016
NM_015915.5(ATL1):c.90A>G (p.Lys30=) rs200452381 0.00012
NM_015915.5(ATL1):c.*212T>A rs372073012 0.00010
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) rs145204580 0.00010
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_015915.5(ATL1):c.1635A>G (p.Pro545=) rs191729308 0.00006
NM_015915.5(ATL1):c.570C>G (p.Leu190=) rs202173614 0.00004
NM_015915.5(ATL1):c.1458C>T (p.Ile486=) rs200825678 0.00002
NM_015915.5(ATL1):c.921C>T (p.Pro307=) rs535790981 0.00001
NM_015915.5(ATL1):c.1552-24_1552-20del rs202061961
NM_015915.5(ATL1):c.1552-68_1552-67insATA rs3080581
NM_015915.5(ATL1):c.418-19G>T rs2934684
NM_015915.5(ATL1):c.573+24dup
NM_015915.5(ATL1):c.574-57TC[11] rs3834518
NM_015915.5(ATL1):c.574-5del
NM_015915.5(ATL1):c.991-13dup rs760671844
NM_015915.5(ATL1):c.991-3del rs753642042
NM_015915.5(ATL1):c.991-3dup rs753642042

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.