ClinVar Miner

List of variants in gene SLC3A1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) rs78795495 0.00357
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) rs138597262 0.00037
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) rs534054965 0.00010
NM_000341.4(SLC3A1):c.1011+12T>C rs370288046 0.00008
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) rs772556641 0.00006
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr) rs772817732 0.00005
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) rs201325919 0.00005
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=) rs772223467 0.00001
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=) rs368554884 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) rs757439376 0.00001
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) rs886056067
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=) rs748832562
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) rs376615998
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) rs140317484
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652

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.