ClinVar Miner

List of variants in gene THOC2 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001081550.2(THOC2):c.1240A>T (p.Asn414Tyr) rs1304440218 0.00005
NM_001081550.2(THOC2):c.4033A>G (p.Thr1345Ala) rs1339252599 0.00002
NM_001081550.2(THOC2):c.1565G>A (p.Arg522His) rs2521396749 0.00001
NM_001081550.2(THOC2):c.1930A>G (p.Ser644Gly) rs377034317 0.00001
NM_001081550.2(THOC2):c.2309A>G (p.Tyr770Cys) rs979471831 0.00001
NM_001081550.2(THOC2):c.673G>T (p.Asp225Tyr) rs775992952 0.00001
NM_001081550.2(THOC2):c.1145C>A (p.Ala382Asp) rs2049081784
NM_001081550.2(THOC2):c.1147A>G (p.Ile383Val) rs928293754
NM_001081550.2(THOC2):c.1166T>G (p.Ile389Arg) rs779166212
NM_001081550.2(THOC2):c.1187G>A (p.Arg396Gln)
NM_001081550.2(THOC2):c.1759A>G (p.Ile587Val) rs1407053185
NM_001081550.2(THOC2):c.2177C>T (p.Ser726Phe) rs2521191305
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2672A>G (p.Asp891Gly) rs2047319309
NM_001081550.2(THOC2):c.2720A>G (p.Lys907Arg) rs991073315
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3137T>C (p.Met1046Thr) rs2521010181
NM_001081550.2(THOC2):c.3242G>A (p.Gly1081Asp) rs1556015763
NM_001081550.2(THOC2):c.3535T>C (p.Tyr1179His) rs2520974618
NM_001081550.2(THOC2):c.3646G>A (p.Ala1216Thr)
NM_001081550.2(THOC2):c.3965C>T (p.Pro1322Leu) rs1458661447
NM_001081550.2(THOC2):c.4009G>A (p.Ala1337Thr) rs866093948
NM_001081550.2(THOC2):c.401C>T (p.Ser134Leu)
NM_001081550.2(THOC2):c.4118T>C (p.Met1373Thr)
NM_001081550.2(THOC2):c.4142G>T (p.Gly1381Val)
NM_001081550.2(THOC2):c.4180C>T (p.Pro1394Ser) rs780690081
NM_001081550.2(THOC2):c.4336C>T (p.Pro1446Ser) rs2147550641
NM_001081550.2(THOC2):c.43A>G (p.Asn15Asp)
NM_001081550.2(THOC2):c.4434G>T (p.Arg1478Ser)
NM_001081550.2(THOC2):c.4498C>T (p.Arg1500Cys) rs987969946
NM_001081550.2(THOC2):c.4649T>C (p.Met1550Thr)
NM_001081550.2(THOC2):c.4660T>A (p.Ser1554Thr)
NM_001081550.2(THOC2):c.4666G>A (p.Gly1556Ser)
NM_001081550.2(THOC2):c.658T>C (p.Cys220Arg) rs1268143956
NM_001081550.2(THOC2):c.844G>C (p.Asp282His)
NM_001081550.2(THOC2):c.996AGA[1] (p.Glu335del) rs2049123032

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.