ClinVar Miner

List of variants in gene SMS studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_004595.5(SMS):c.561A>G (p.Glu187=) rs138516691 0.00102
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614 0.00032
NM_004595.5(SMS):c.171C>T (p.Ser57=) rs201558273 0.00019
NM_004595.5(SMS):c.114G>A (p.Ser38=) rs138924455 0.00014
NM_004595.5(SMS):c.661-5C>T rs371972467 0.00014
NM_004595.5(SMS):c.569C>T (p.Thr190Ile) rs201275730 0.00006
NM_004595.5(SMS):c.714C>T (p.Gly238=) rs760174828 0.00004
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) rs751460863 0.00002
NM_004595.5(SMS):c.789C>T (p.Tyr263=) rs201590846 0.00002
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_004595.5(SMS):c.1061+4T>C
NM_004595.5(SMS):c.107C>T (p.Ala36Val)
NM_004595.5(SMS):c.1096C>T (p.Pro366Ser)
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.264+3C>G
NM_004595.5(SMS):c.335C>T (p.Pro112Leu) rs2147517480
NM_004595.5(SMS):c.339C>T (p.Pro113=)
NM_004595.5(SMS):c.564T>G (p.Asp188Glu)
NM_004595.5(SMS):c.597T>G (p.Gly199=)
NM_004595.5(SMS):c.603C>T (p.Asp201=)
NM_004595.5(SMS):c.638C>A (p.Pro213Gln) rs1556001138
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004595.5(SMS):c.741C>G (p.Asp247Glu)
NM_004595.5(SMS):c.773C>T (p.Pro258Leu)
NM_004595.5(SMS):c.804A>G (p.Arg268=)
NM_004595.5(SMS):c.820A>G (p.Ile274Val) rs1569354289
NM_004595.5(SMS):c.843A>G (p.Pro281=)
NM_004595.5(SMS):c.852G>A (p.Thr284=)

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.