ClinVar Miner

List of variants in gene MTOR reported as uncertain significance for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile) rs139043855 0.00041
NM_004958.4(MTOR):c.743C>T (p.Thr248Ile) rs377679898 0.00005
NM_004958.4(MTOR):c.5060A>G (p.His1687Arg) rs376436419 0.00002
NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val) rs759436987 0.00002
NM_004958.4(MTOR):c.6871G>A (p.Val2291Ile) rs774791298 0.00002
NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly) rs1288219609 0.00001
NM_004958.4(MTOR):c.2045G>A (p.Arg682His) rs778348776 0.00001
NM_004958.4(MTOR):c.4570+5A>G rs370139854 0.00001
NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala) rs1250124959 0.00001
NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys) rs1258909652 0.00001
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val) rs1010993658 0.00001
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)
NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser) rs201601333
NM_004958.4(MTOR):c.1559T>C (p.Val520Ala)
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)
NM_004958.4(MTOR):c.2083G>T (p.Ala695Ser)
NM_004958.4(MTOR):c.2110G>A (p.Val704Met)
NM_004958.4(MTOR):c.221T>C (p.Leu74Ser)
NM_004958.4(MTOR):c.2295C>A (p.Pro765=)
NM_004958.4(MTOR):c.2579A>T (p.Lys860Met) rs1441440583
NM_004958.4(MTOR):c.2751_2752del (p.Ser918fs)
NM_004958.4(MTOR):c.2959G>A (p.Val987Met) rs2100855037
NM_004958.4(MTOR):c.3074G>C (p.Ser1025Thr)
NM_004958.4(MTOR):c.3462G>T (p.Arg1154=)
NM_004958.4(MTOR):c.394C>T (p.Arg132Cys) rs747458067
NM_004958.4(MTOR):c.3961G>A (p.Ala1321Thr)
NM_004958.4(MTOR):c.422C>T (p.Thr141Ile) rs1266943208
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr) rs2100568346
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val) rs886041096
NM_004958.4(MTOR):c.505-2A>G rs869312706
NM_004958.4(MTOR):c.5113T>G (p.Trp1705Gly)
NM_004958.4(MTOR):c.5519C>T (p.Thr1840Ile)
NM_004958.4(MTOR):c.5704G>A (p.Asp1902Asn)
NM_004958.4(MTOR):c.5947A>T (p.Thr1983Ser)
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter) rs2100406692
NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser) rs1642202172
NM_004958.4(MTOR):c.7096A>G (p.Met2366Val)
NM_004958.4(MTOR):c.7105G>C (p.Glu2369Gln)
NM_004958.4(MTOR):c.7154A>G (p.Asn2385Ser)
NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro)
NM_004958.4(MTOR):c.729G>T (p.Lys243Asn)
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del) rs1641966003
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His)
NM_004958.4(MTOR):c.920G>C (p.Gly307Ala) rs1649073784

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.