ClinVar Miner

List of variants in gene SMARCAL1 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228
NM_014140.3(SMARCAL1):c.1128G>A (p.Leu376=) rs794727801
NM_014140.3(SMARCAL1):c.114G>T (p.Ser38=) rs374642503
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846
NM_014140.3(SMARCAL1):c.1485+10C>T rs886042157
NM_014140.3(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115
NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.3(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.2201A>G (p.His734Arg) rs886043438
NM_014140.3(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324
NM_014140.3(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683
NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758
NM_014140.3(SMARCAL1):c.2427+9C>T rs201601053
NM_014140.3(SMARCAL1):c.2449C>A (p.Arg817Ser) rs794727171
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2529-4A>G rs886042978
NM_014140.3(SMARCAL1):c.2745T>C (p.Ser915=) rs886044051
NM_014140.3(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368
NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.3(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697
NM_014140.3(SMARCAL1):c.527C>G (p.Thr176Arg) rs747775289
NM_014140.3(SMARCAL1):c.675G>A (p.Lys225=) rs751534116
NM_014140.3(SMARCAL1):c.810T>C (p.Tyr270=) rs886043060
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=) rs139949668
NM_014140.3(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234
NM_014140.4(SMARCAL1):c.2765T>C rs200431186

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.