ClinVar Miner

List of variants in gene SALL1 reported as pathogenic for Townes-Brocks syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_001127892.1(SALL1):c.1054_1055CA[1] (p.His352fs)
NM_001127892.1(SALL1):c.501_502del (p.Leu167fs)
NM_001127892.1(SALL1):c.704del (p.Pro235fs)
NM_001127892.1(SALL1):c.824C>A (p.Ser275Ter) rs104894535
NM_001127892.1(SALL1):c.824C>G (p.Ser275Ter) rs104894535
NM_001127892.1(SALL1):c.979del (p.Gln327fs)
NM_001127892.1(SALL1):c.986_987del (p.Arg329fs)
NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) rs1085307143
NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) rs137853084
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
SALL1, 2-BP DEL, 3414AT

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.