ClinVar Miner

List of variants in gene SLC3A1 reported as pathogenic for Cystinuria

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
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.1332+2T>A rs758627758 0.00001
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
NC_000002.11:g.(?_44507835)_(44508700_?)del
NC_000002.11:g.(?_44527090)_(44528286_?)del
NC_000002.11:g.(?_44527090)_(44541110_?)del
NC_000002.11:g.(?_44527090)_(44541110_?)dup
NC_000002.12:g.(?_44280696)_(44286177_?)del
NC_000002.12:g.44304143del
NG_008233.1:g.17226_17227[ins17227_48142;GTTTGCATAGGCACAGAATGTAT]
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=) rs772810111
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) rs1553344107
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1136+1G>T
NM_000341.4(SLC3A1):c.1136+2T>C
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser) rs139251285
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1431_1434dup (p.Tyr479fs)
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter) rs2104385536
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) rs387907276
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) rs779932118
NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)
NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer) rs755432720
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) rs121912694
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg) rs369603431
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter) rs542026439
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)
NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs) rs747035900
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) rs768222969

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.