ClinVar Miner

List of variants in gene DNM1L reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012062.5(DNM1L):c.1470A>G (p.Glu490=) rs79393011 0.00828
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=) rs118169466 0.00464
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) rs138133550 0.00073
NM_012062.5(DNM1L):c.1356+6G>A rs201894145 0.00016
NM_012062.5(DNM1L):c.2151A>G (p.Leu717=) rs149256584 0.00016
NM_012062.5(DNM1L):c.422A>G (p.Asn141Ser) rs138620818 0.00014
NM_012062.5(DNM1L):c.250+7T>A rs374498228 0.00009
NM_012062.5(DNM1L):c.2031T>C (p.His677=) rs144811347 0.00005
NM_012062.5(DNM1L):c.108C>T (p.Ser36=) rs182756299 0.00004
NM_012062.5(DNM1L):c.1091C>A (p.Ala364Asp) rs1592661947
NM_012062.5(DNM1L):c.1205C>T (p.Pro402Leu)
NM_012062.5(DNM1L):c.1447-4C>G rs2137539142
NM_012062.5(DNM1L):c.1495C>G (p.Pro499Ala)
NM_012062.5(DNM1L):c.1521A>C (p.Leu507=)
NM_012062.5(DNM1L):c.1737T>C (p.Asp579=)
NM_012062.5(DNM1L):c.1872C>T (p.Asn624=)
NM_012062.5(DNM1L):c.357A>G (p.Ser119=)
NM_012062.5(DNM1L):c.445G>A (p.Gly149Arg)
NM_012062.5(DNM1L):c.457-10_457-7del rs769118365
NM_012062.5(DNM1L):c.514C>T (p.Arg172Trp)
NM_012062.5(DNM1L):c.753T>A (p.Asp251Glu) rs2137435240
NM_012062.5(DNM1L):c.759CAA[1] (p.Asn254del) rs1953761791
NM_012062.5(DNM1L):c.861G>A (p.Arg287=)

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.