ClinVar Miner

List of variants in gene SLC1A3 reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004172.5(SLC1A3):c.342G>A (p.Lys114=) rs34809305 0.00501
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=) rs139659178 0.00387
NM_004172.5(SLC1A3):c.69T>A (p.Arg23=) rs140080134 0.00342
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=) rs150357327 0.00272
NM_004172.5(SLC1A3):c.195A>T (p.Gly65=) rs148896855 0.00266
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=) rs147973032 0.00068
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00061
NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His) rs115702388 0.00058
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His) rs199774340 0.00026
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly) rs201069745 0.00016
NM_004172.5(SLC1A3):c.182-8T>C rs758803628 0.00015
NM_004172.5(SLC1A3):c.291A>G (p.Leu97=) rs549983023 0.00014
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00013
NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) rs375527461 0.00011
NM_004172.5(SLC1A3):c.841C>T (p.Leu281=) rs780281944 0.00010
NM_004172.5(SLC1A3):c.1434C>G (p.Leu478=) rs778865549 0.00002
NM_004172.5(SLC1A3):c.168C>T (p.Thr56=) rs751614772

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.