ClinVar Miner

List of variants in gene DNM1L reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012062.5(DNM1L):c.1588C>T (p.Arg530Ter) rs1439786424 0.00003
NM_012062.5(DNM1L):c.28A>T (p.Lys10Ter) rs745921568 0.00002
NC_000012.11:g.(?_32866123)_(32866325_?)del
NM_012062.5(DNM1L):c.1034del (p.Cys345fs) rs1467203496
NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly) rs879255688
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser) rs886037861
NM_012062.5(DNM1L):c.1109T>C (p.Phe370Ser)
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr) rs1064794656
NM_012062.5(DNM1L):c.1365dup (p.Arg456fs)
NM_012062.5(DNM1L):c.1503del (p.Phe501fs)
NM_012062.5(DNM1L):c.1598dup (p.Ser534fs)
NM_012062.5(DNM1L):c.1696G>T (p.Glu566Ter)
NM_012062.5(DNM1L):c.1908_1911dup (p.Ala638fs) rs2137591737
NM_012062.5(DNM1L):c.1945C>T (p.Arg649Ter) rs1233958373
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) rs1565548029
NM_012062.5(DNM1L):c.322C>T (p.Arg108Ter)
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) rs879255687
NM_012062.5(DNM1L):c.349_352del (p.Arg117fs)
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) rs1057523861
NM_012062.5(DNM1L):c.496del (p.Ile166fs)
NM_012062.5(DNM1L):c.610_614del (p.Asp204fs)

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.