ClinVar Miner

List of variants in gene SMG9 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019108.4(SMG9):c.133T>C (p.Trp45Arg) rs202142067 0.00027
NM_019108.4(SMG9):c.196A>G (p.Ile66Val) rs200972716 0.00018
NM_019108.4(SMG9):c.1352G>A (p.Ser451Asn) rs146844109 0.00013
NM_019108.4(SMG9):c.1067G>T (p.Gly356Val) rs139642454 0.00010
NM_019108.4(SMG9):c.382G>A (p.Ala128Thr) rs773896498 0.00010
NM_019108.4(SMG9):c.658G>A (p.Val220Ile) rs751294942 0.00005
NM_019108.4(SMG9):c.1502G>A (p.Arg501Gln) rs910391772 0.00003
NM_019108.4(SMG9):c.518C>T (p.Pro173Leu) rs763986657 0.00003
NM_019108.4(SMG9):c.530T>C (p.Met177Thr) rs747752305 0.00002
NM_019108.4(SMG9):c.110G>A (p.Arg37Gln) rs1568382956 0.00001
NM_019108.4(SMG9):c.1144C>T (p.Arg382Trp) rs368089847 0.00001
NM_019108.4(SMG9):c.1244C>T (p.Pro415Leu) rs201687817 0.00001
NM_019108.4(SMG9):c.1249C>T (p.Leu417Phe) rs777838022 0.00001
NM_019108.4(SMG9):c.1258G>C (p.Asp420His) rs752814999 0.00001
NM_019108.4(SMG9):c.139A>G (p.Arg47Gly) rs1053832229 0.00001
NM_019108.4(SMG9):c.49C>T (p.Arg17Trp) rs374528302 0.00001
NM_019108.4(SMG9):c.752A>G (p.Asn251Ser) rs371660173 0.00001
NM_019108.4(SMG9):c.1124G>A (p.Arg375His) rs201870805
NM_019108.4(SMG9):c.1300A>G (p.Met434Val)
NM_019108.4(SMG9):c.1340-5T>C
NM_019108.4(SMG9):c.1379A>G (p.Tyr460Cys) rs2513896103
NM_019108.4(SMG9):c.1381C>T (p.Arg461Cys)
NM_019108.4(SMG9):c.1390C>T (p.Pro464Ser)
NM_019108.4(SMG9):c.1420C>T (p.Arg474Trp) rs750803882
NM_019108.4(SMG9):c.1435T>C (p.Ser479Pro)
NM_019108.4(SMG9):c.1438A>G (p.Met480Val)
NM_019108.4(SMG9):c.1495G>A (p.Ala499Thr)
NM_019108.4(SMG9):c.362G>T (p.Gly121Val) rs758635388
NM_019108.4(SMG9):c.365C>A (p.Thr122Asn) rs2513935549
NM_019108.4(SMG9):c.392C>T (p.Ala131Val)
NM_019108.4(SMG9):c.458G>T (p.Gly153Val) rs1355998209
NM_019108.4(SMG9):c.472G>A (p.Ala158Thr)
NM_019108.4(SMG9):c.484A>G (p.Met162Val)
NM_019108.4(SMG9):c.496G>A (p.Val166Met)
NM_019108.4(SMG9):c.527G>C (p.Arg176Pro) rs775419922
NM_019108.4(SMG9):c.751A>C (p.Asn251His) rs764359945
NM_019108.4(SMG9):c.826C>T (p.Pro276Ser)
NM_019108.4(SMG9):c.892A>G (p.Thr298Ala) rs1390609685
NM_019108.4(SMG9):c.964C>G (p.Gln322Glu)

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.