ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn) rs202092043 0.00021
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_005422.4(TECTA):c.1757G>A (p.Arg586Gln) rs146621940 0.00013
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His) rs527976707 0.00004
NM_005422.4(TECTA):c.6162+1G>A rs1045921265 0.00003
NM_005422.4(TECTA):c.2272A>C (p.Lys758Gln) rs368853575 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005422.4(TECTA):c.1503C>T (p.Ser501=)
NM_005422.4(TECTA):c.2137T>C (p.Cys713Arg) rs1946633040
NM_005422.4(TECTA):c.2359del (p.Glu787fs) rs1057519150
NM_005422.4(TECTA):c.3128A>C (p.His1043Pro) rs1555125132
NM_005422.4(TECTA):c.3250A>G (p.Met1084Val)
NM_005422.4(TECTA):c.4116C>T (p.Cys1372=)
NM_005422.4(TECTA):c.4446C>G (p.Thr1482=) rs1340150844
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.5986A>G (p.Ile1996Val) rs776269917
NM_005422.4(TECTA):c.6152C>G (p.Ser2051Cys) rs1064797163
NM_005422.4(TECTA):c.6248A>G (p.Lys2083Arg) rs1243470271
NM_005422.4(TECTA):c.6402G>A (p.Thr2134=) rs141203939
NM_005422.4(TECTA):c.746T>C (p.Val249Ala)
NM_005422.4(TECTA):c.837C>T (p.Cys279=) rs1946520391
NM_005422.4(TECTA):c.874A>T (p.Ile292Phe)

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.