List of variants in gene SUFU reported as likely benign for SUFU-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016169.4(SUFU):c.910+14C>T	rs202247757	0.00133
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)	rs34406289	0.00072
NM_016169.4(SUFU):c.318-17C>A	rs201198734	0.00029
NM_016169.4(SUFU):c.1308C>T (p.Thr436=)	rs142029957	0.00025
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)	rs145704867	0.00017
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)	rs144158469	0.00011
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	rs79299301	0.00008
NM_016169.4(SUFU):c.879C>T (p.Ile293=)	rs370516021	0.00007
NM_016169.4(SUFU):c.183-4G>A	rs766044613	0.00005
NM_016169.4(SUFU):c.318-7C>G	rs751778806	0.00003
NM_016169.4(SUFU):c.474G>A (p.Gly158=)	rs375178556	0.00003
NM_016169.4(SUFU):c.1008C>T (p.Ala336=)	rs770049693	0.00002
NM_016169.4(SUFU):c.1446G>A (p.Pro482=)	rs761389038	0.00002
NM_016169.4(SUFU):c.1221G>A (p.Thr407=)	rs555064651	0.00001
NM_016169.4(SUFU):c.480T>C (p.His160=)	rs1308247295	0.00001
NM_016169.4(SUFU):c.910+8C>G	rs1159461161	0.00001
NM_016169.4(SUFU):c.933C>A (p.Thr311=)	rs767071744	0.00001
NM_016169.4(SUFU):c.*6G>A	rs375366321
NM_016169.4(SUFU):c.1188A>C (p.Thr396=)	rs1418070936
NM_016169.4(SUFU):c.317+3G>A	rs2135621016

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.