List of variants in gene SUFU studied for Gorlin syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016169.4(SUFU):c.*20T>G	rs4917980	0.99823
NM_016169.4(SUFU):c.1365+19T>C	rs12414407	0.68248
NM_016169.4(SUFU):c.182+16C>T	rs2274351	0.46492
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	rs137880855	0.00014
NM_016169.4(SUFU):c.1296+1638C>T	rs368920108	0.00014
NM_016169.4(SUFU):c.183-4G>A	rs766044613	0.00005
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	rs746322193	0.00002
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)	rs201326378	0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	rs778125780	0.00001
NM_016169.4(SUFU):c.1022+1G>A	rs587776578
NM_016169.4(SUFU):c.1022dup (p.Ser342fs)	rs2135889249
NM_016169.4(SUFU):c.1023-3C>T	rs550262133
NM_016169.4(SUFU):c.1147_1150del (p.Leu383fs)
NM_016169.4(SUFU):c.1296+1635C>A	rs975490066
NM_016169.4(SUFU):c.160del (p.Val54fs)	rs2135598717

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.