ClinVar Miner

Variants in gene MTOR with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys) rs199712134 0.00003
NM_004958.4(MTOR):c.2056C>T (p.His686Tyr) rs199502742 0.00002
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp) rs202187935 0.00002
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=) rs750981339 0.00001
NM_004958.4(MTOR):c.3527C>T (p.Thr1176Met) rs557533784 0.00001
NM_004958.4(MTOR):c.4254-5C>A rs201737471 0.00001
NM_004958.4(MTOR):c.4847G>A (p.Arg1616His) rs1297595805 0.00001
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His) rs1642913016 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004958.4(MTOR):c.1226-7T>C
NM_004958.4(MTOR):c.1226A>T (p.Asp409Val)
NM_004958.4(MTOR):c.1412+5G>A rs2100921727
NM_004958.4(MTOR):c.1413-3_1413-2del rs780487698
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del) rs1228888866
NM_004958.4(MTOR):c.1759C>T (p.Arg587Ter) rs750031278
NM_004958.4(MTOR):c.2069C>T (p.Ala690Val)
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
NM_004958.4(MTOR):c.3404C>G (p.Ala1135Gly) rs1646342863
NM_004958.4(MTOR):c.3482G>A (p.Arg1161Gln) rs777609766
NM_004958.4(MTOR):c.353A>G (p.Asn118Ser)
NM_004958.4(MTOR):c.4628G>A (p.Gly1543Glu) rs2100519683
NM_004958.4(MTOR):c.4687-3T>C rs760066667
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile) rs1386078325
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup) rs1643098054
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004958.4(MTOR):c.5650G>A (p.Ala1884Thr) rs1643025235
NM_004958.4(MTOR):c.5723C>T (p.Thr1908Ile) rs2100419408
NM_004958.4(MTOR):c.6908T>C (p.Leu2303Pro) rs2100356600
NM_004958.4(MTOR):c.7017-4A>G
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del) rs1641966003

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.