ClinVar Miner

List of variants in gene SALL4 reported as benign for Duane-radial ray syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) rs13038893 0.29998
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_020436.5(SALL4):c.2640G>C (p.Ser880=) rs17802735 0.09099
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu) rs6091375 0.08032
NM_020436.5(SALL4):c.2037C>T (p.Thr679=) rs13043248 0.07305
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) rs61737142 0.02370
NM_020436.5(SALL4):c.645C>G (p.Leu215=) rs61737139 0.02226
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_020436.5(SALL4):c.408T>C (p.Asn136=) rs76870996 0.01190
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656 0.00245
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259 0.00206
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) rs139022152 0.00200
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) rs143601538 0.00146
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr) rs145275500 0.00146
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) rs77538589 0.00073
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala) rs149359253 0.00044
NM_020436.5(SALL4):c.2493A>G (p.Arg831=) rs79909922 0.00043
NM_020436.5(SALL4):c.2649C>T (p.Ser883=) rs772770482 0.00043
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) rs147195029 0.00041
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_020436.5(SALL4):c.1113C>G (p.Val371=) rs77810153 0.00023
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) rs146604877 0.00011
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_020436.5(SALL4):c.2028C>T (p.Asn676=) rs755057820 0.00006
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
NM_020436.5(SALL4):c.2742+16C>T
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409

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.