ClinVar Miner

List of variants in gene SURF1 reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_003172.3(SURF1):c.118A>T (p.Arg40Trp) rs781831910
NM_003172.3(SURF1):c.185T>G (p.Leu62Arg)
NM_003172.3(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.3(SURF1):c.324-10_324-9insAGA rs1299986010
NM_003172.3(SURF1):c.350A>C (p.Tyr117Ser) rs145615218
NM_003172.3(SURF1):c.352A>T (p.Arg118Trp) rs201492662
NM_003172.3(SURF1):c.366C>T (p.Val122=) rs886063630
NM_003172.3(SURF1):c.54+10G>A rs587598397
NM_003172.3(SURF1):c.54+9C>G rs587675928
NM_003172.3(SURF1):c.643C>G (p.Pro215Ala) rs147165855
NM_003172.3(SURF1):c.736A>G (p.Ile246Val) rs782480169
NM_003172.3(SURF1):c.745A>G (p.Asn249Asp) rs587669420
NM_003172.3(SURF1):c.752-4dup rs1159512660
NM_003172.3(SURF1):c.808G>A (p.Glu270Lys) rs781924765
NM_003172.3(SURF1):c.809_826dup (p.Ile275_Val276insGluHisLeuGlnTyrIle)
NM_003172.3(SURF1):c.814_815insGAGCATC (p.Leu272Argfs) rs1554768224
NM_003172.3(SURF1):c.893C>G (p.Pro298Arg) rs201822068

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.