ClinVar Miner

Variants in gene SURF1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_003172.4(SURF1):c.507C>T (p.Thr169=) rs782614599 0.00005
NM_003172.4(SURF1):c.106+15C>G rs781892153 0.00001
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NM_003172.4(SURF1):c.226T>C (p.Leu76=) rs782036327

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.