ClinVar Miner

List of variants in gene GUCY2D studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met) rs1454369607 0.00008
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp) rs746525316 0.00007
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser) rs917296356 0.00004
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met) rs780014587 0.00004
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln) rs755150485 0.00004
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg) rs751263915 0.00003
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu) rs528169554 0.00002
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His) rs563091520 0.00001
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys) rs1346762413 0.00001
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly) rs1423033093
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
NM_000180.4(GUCY2D):c.1084G>A (p.Ala362Thr)
NM_000180.4(GUCY2D):c.131T>G (p.Leu44Arg)
NM_000180.4(GUCY2D):c.1327C>T (p.Pro443Ser)
NM_000180.4(GUCY2D):c.137A>T (p.Gln46Leu)
NM_000180.4(GUCY2D):c.1553G>C (p.Gly518Ala)
NM_000180.4(GUCY2D):c.155C>T (p.Ala52Val)
NM_000180.4(GUCY2D):c.1583G>A (p.Arg528Gln)
NM_000180.4(GUCY2D):c.1750C>G (p.Leu584Val)
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
NM_000180.4(GUCY2D):c.203T>A (p.Phe68Tyr)
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg) rs200128473
NM_000180.4(GUCY2D):c.2867T>A (p.Ile956Asn)
NM_000180.4(GUCY2D):c.2905C>T (p.Pro969Ser)
NM_000180.4(GUCY2D):c.2942C>T (p.Ser981Leu)
NM_000180.4(GUCY2D):c.296C>A (p.Ala99Glu)
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys) rs1273973537
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.509A>C (p.Asp170Ala)
NM_000180.4(GUCY2D):c.509A>T (p.Asp170Val)
NM_000180.4(GUCY2D):c.548G>A (p.Arg183His)
NM_000180.4(GUCY2D):c.59C>T (p.Ala20Val)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000180.4(GUCY2D):c.905G>A (p.Arg302His)
NM_000180.4(GUCY2D):c.931C>A (p.Leu311Ile)
NM_000180.4(GUCY2D):c.98T>G (p.Leu33Arg)

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.