ClinVar Miner

List of variants in gene SLC44A4 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025257.3(SLC44A4):c.1130+72C>T rs660594 0.59936
NM_025257.3(SLC44A4):c.1130+45G>T rs660550 0.59920
NM_025257.3(SLC44A4):c.1038-77T>C rs571338 0.59839
NM_025257.3(SLC44A4):c.938-11G>A rs644774 0.59820
NM_025257.3(SLC44A4):c.976A>G (p.Met326Val) rs644827 0.59818
NM_025257.3(SLC44A4):c.937+44C>T rs493515 0.59810
NM_025257.3(SLC44A4):c.559G>A (p.Val187Ile) rs2242665 0.59793
NM_025257.3(SLC44A4):c.537G>A (p.Gly179=) rs2242664 0.59779
NM_025257.3(SLC44A4):c.530-156G>A rs3132442 0.58842
NM_025257.3(SLC44A4):c.90-18G>A rs2736428 0.25381
NM_025257.3(SLC44A4):c.368A>T (p.Asp123Val) rs12661281 0.11371
NM_025257.3(SLC44A4):c.89+127T>C rs6907185 0.08870
NM_025257.3(SLC44A4):c.702-116G>A rs9267652 0.07130
NM_025257.3(SLC44A4):c.90-92C>T rs76133439 0.06573
NM_025257.3(SLC44A4):c.1131-32G>A rs11966200 0.04595
NM_025257.3(SLC44A4):c.1038-89G>C rs4448084 0.03686
NM_025257.3(SLC44A4):c.41-139C>T rs116275603 0.02470
NM_025257.3(SLC44A4):c.2011+115C>T rs73402188 0.01973
NM_025257.3(SLC44A4):c.243-54C>G rs73404118 0.01968
NM_025257.3(SLC44A4):c.1189C>T (p.Pro397Ser) rs116706632 0.00789
NM_025257.3(SLC44A4):c.1038-48A>G rs200097123 0.00695
NM_025257.3(SLC44A4):c.90-20C>T rs116505024 0.00446
NM_025257.3(SLC44A4):c.1233+105A>C rs521977
NM_025257.3(SLC44A4):c.2011+58dup rs5875335
NM_025257.3(SLC44A4):c.2011+72del rs5875335
NM_025257.3(SLC44A4):c.813C>T (p.Tyr271=) rs494620

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.