ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_002968.2(SALL1):c.*1016T>C rs886052073
NM_002968.2(SALL1):c.*1033dup rs551604859
NM_002968.2(SALL1):c.*125C>T rs886052080
NM_002968.2(SALL1):c.*45C>A rs774473806
NM_002968.2(SALL1):c.*558A>G rs886052079
NM_002968.2(SALL1):c.*563del rs886052078
NM_002968.2(SALL1):c.*592G>A rs886052077
NM_002968.2(SALL1):c.*705_*706del rs886052076
NM_002968.2(SALL1):c.*865A>C rs886052075
NM_002968.2(SALL1):c.*904C>T rs886052074
NM_002968.2(SALL1):c.*920_*922CTT[2] rs527584319
NM_002968.2(SALL1):c.130G>A (p.Val44Ile) rs373744120
NM_002968.2(SALL1):c.1321A>G (p.Thr441Ala) rs886052084
NM_002968.2(SALL1):c.1502A>G (p.Glu501Gly) rs749792542
NM_002968.2(SALL1):c.2399A>G (p.Asp800Gly) rs372655572
NM_002968.2(SALL1):c.2557T>G (p.Ser853Ala) rs771150625
NM_002968.2(SALL1):c.3277G>A (p.Val1093Met) rs371314603
NM_002968.2(SALL1):c.3424A>G (p.Thr1142Ala) rs886052083
NM_002968.2(SALL1):c.351C>T (p.Asn117=) rs145806303
NM_002968.2(SALL1):c.3713C>A (p.Ala1238Glu) rs886052082
NM_002968.2(SALL1):c.3768G>A (p.Gln1256=) rs886052081
NM_002968.2(SALL1):c.3929G>A (p.Arg1310His) rs372873373
NM_002968.2(SALL1):c.3947A>C (p.Glu1316Ala) rs375212546
NM_002968.2(SALL1):c.3947A>G (p.Glu1316Gly) rs375212546
NM_002968.2(SALL1):c.43G>A (p.Asp15Asn) rs886052085
NM_002968.2(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.2(SALL1):c.448_450AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.2(SALL1):c.448_450AGC[9] (p.Ser159del) rs113614842
NM_002968.2(SALL1):c.44A>C (p.Asp15Ala) rs77265655
NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) rs1555475415
NM_002968.2(SALL1):c.478_480GGC[5] (p.Gly163dup) rs1555475414
NM_002968.2(SALL1):c.649G>A (p.Gly217Ser) rs140165636

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.