ClinVar Miner

List of variants in gene SHROOM4 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=) rs6614552 0.06860
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863 0.01172
NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe) rs28362302 0.00632
NM_020717.5(SHROOM4):c.839G>A (p.Arg280Gln) rs146093347 0.00267
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00169
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_020717.5(SHROOM4):c.3211C>T (p.Arg1071Trp) rs727504152 0.00005
NM_020717.5(SHROOM4):c.770G>A (p.Arg257His) rs376604578 0.00005
NM_020717.5(SHROOM4):c.325G>A (p.Gly109Arg) rs782624872 0.00003
NM_020717.5(SHROOM4):c.547C>G (p.Pro183Ala) rs148593189 0.00003
NM_020717.5(SHROOM4):c.1100T>C (p.Val367Ala) rs398124362 0.00002
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) rs201922875
NM_020717.5(SHROOM4):c.3390A>G (p.Gln1130=) rs534812379
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) rs143151534
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) rs886044870

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.