ClinVar Miner

List of variants in gene SLC52A2 reported as pathogenic for brown-Vialetto-van Laere syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862 0.00005
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539 0.00003
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_001363118.2(SLC52A2):c.1094del (p.Leu365fs) rs1564657463 0.00001
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997 0.00001
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657 0.00001
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538 0.00001
NM_001363118.2(SLC52A2):c.751C>T (p.Gln251Ter) rs1312209529 0.00001
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068 0.00001
NC_000008.11:g.(?_144358571)_(144361296_?)del
NM_001363118.2(SLC52A2):c.1030_1031del (p.Leu344fs) rs1328651461
NM_001363118.2(SLC52A2):c.1076_1079del (p.Leu359fs) rs1586558204
NM_001363118.2(SLC52A2):c.1137G>A (p.Trp379Ter) rs782764685
NM_001363118.2(SLC52A2):c.1140del (p.Leu381fs) rs879254305
NM_001363118.2(SLC52A2):c.116_130+83del rs1564653965
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter) rs782095095
NM_001363118.2(SLC52A2):c.279_283del (p.Leu94fs) rs2130638836
NM_001363118.2(SLC52A2):c.292_293del (p.Leu98fs)
NM_001363118.2(SLC52A2):c.327dup (p.His110fs)
NM_001363118.2(SLC52A2):c.402CTT[1] (p.Phe135del) rs1337709383
NM_001363118.2(SLC52A2):c.543del (p.Gly182fs)
NM_001363118.2(SLC52A2):c.54_55del (p.Phe19fs)
NM_001363118.2(SLC52A2):c.551del (p.Pro184fs) rs1554854044
NM_001363118.2(SLC52A2):c.593G>A (p.Trp198Ter) rs1818749427
NM_001363118.2(SLC52A2):c.595del (p.Ala199fs)
NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067

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.