ClinVar Miner

List of variants in gene TECRL reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001010874.5(TECRL):c.722C>T (p.Thr241Ile) rs148333637 0.00026
NM_001010874.5(TECRL):c.-1A>T rs144018505 0.00009
NM_001010874.5(TECRL):c.1000T>C (p.Ser334Pro)
NM_001010874.5(TECRL):c.1004T>C (p.Leu335Ser)
NM_001010874.5(TECRL):c.1006T>A (p.Trp336Arg)
NM_001010874.5(TECRL):c.1009del (p.Ala337fs) rs1461307621
NM_001010874.5(TECRL):c.1013A>C (p.Gln338Pro)
NM_001010874.5(TECRL):c.1019A>G (p.Lys340Arg)
NM_001010874.5(TECRL):c.101A>G (p.His34Arg)
NM_001010874.5(TECRL):c.1027A>T (p.Ile343Phe)
NM_001010874.5(TECRL):c.1031A>T (p.Tyr344Phe)
NM_001010874.5(TECRL):c.1042T>C (p.Phe348Leu)
NM_001010874.5(TECRL):c.1069G>A (p.Ala357Thr)
NM_001010874.5(TECRL):c.1073T>A (p.Met358Lys)
NM_001010874.5(TECRL):c.118G>C (p.Val40Leu)
NM_001010874.5(TECRL):c.128C>A (p.Ala43Glu)
NM_001010874.5(TECRL):c.131G>A (p.Gly44Asp)
NM_001010874.5(TECRL):c.145A>G (p.Thr49Ala)
NM_001010874.5(TECRL):c.146C>T (p.Thr49Ile)
NM_001010874.5(TECRL):c.148C>T (p.Pro50Ser)
NM_001010874.5(TECRL):c.161A>G (p.His54Arg)
NM_001010874.5(TECRL):c.167A>C (p.Lys56Thr)
NM_001010874.5(TECRL):c.168A>C (p.Lys56Asn)
NM_001010874.5(TECRL):c.175C>T (p.His59Tyr)
NM_001010874.5(TECRL):c.179T>G (p.Phe60Cys)
NM_001010874.5(TECRL):c.182A>T (p.Glu61Val)
NM_001010874.5(TECRL):c.194T>G (p.Phe65Cys)
NM_001010874.5(TECRL):c.197A>G (p.Asp66Gly)
NM_001010874.5(TECRL):c.199G>A (p.Ala67Thr)
NM_001010874.5(TECRL):c.216G>T (p.Gln72His)
NM_001010874.5(TECRL):c.220T>C (p.Cys74Arg)
NM_001010874.5(TECRL):c.221G>A (p.Cys74Tyr)
NM_001010874.5(TECRL):c.223A>G (p.Ile75Val)
NM_001010874.5(TECRL):c.229G>C (p.Asp77His)
NM_001010874.5(TECRL):c.22C>A (p.Leu8Ile)
NM_001010874.5(TECRL):c.236T>C (p.Val79Ala)
NM_001010874.5(TECRL):c.238A>G (p.Thr80Ala)
NM_001010874.5(TECRL):c.25G>A (p.Ala9Thr)
NM_001010874.5(TECRL):c.25G>T (p.Ala9Ser)
NM_001010874.5(TECRL):c.286+3A>G
NM_001010874.5(TECRL):c.286+5G>A
NM_001010874.5(TECRL):c.287-4A>G
NM_001010874.5(TECRL):c.287-5A>C
NM_001010874.5(TECRL):c.308G>A (p.Arg103Gln)
NM_001010874.5(TECRL):c.311T>C (p.Val104Ala)
NM_001010874.5(TECRL):c.313G>A (p.Gly105Ser)
NM_001010874.5(TECRL):c.325G>A (p.Glu109Lys)
NM_001010874.5(TECRL):c.32_34dup (p.Glu11_Arg12insGln)
NM_001010874.5(TECRL):c.332-3T>C
NM_001010874.5(TECRL):c.332G>A (p.Gly111Asp)
NM_001010874.5(TECRL):c.334G>A (p.Gly112Arg)
NM_001010874.5(TECRL):c.338C>A (p.Pro113His)
NM_001010874.5(TECRL):c.350A>T (p.Asp117Val)
NM_001010874.5(TECRL):c.353A>G (p.Tyr118Cys)
NM_001010874.5(TECRL):c.35G>A (p.Arg12His)
NM_001010874.5(TECRL):c.35G>T (p.Arg12Leu)
NM_001010874.5(TECRL):c.364C>G (p.Gln122Glu)
NM_001010874.5(TECRL):c.369T>G (p.Ser123Arg)
NM_001010874.5(TECRL):c.371T>C (p.Ile124Thr)
NM_001010874.5(TECRL):c.373G>A (p.Ala125Thr)
NM_001010874.5(TECRL):c.376G>C (p.Ala126Pro)
NM_001010874.5(TECRL):c.377C>G (p.Ala126Gly)
NM_001010874.5(TECRL):c.377C>T (p.Ala126Val)
NM_001010874.5(TECRL):c.38A>G (p.Lys13Arg)
NM_001010874.5(TECRL):c.403A>G (p.Thr135Ala)
NM_001010874.5(TECRL):c.410T>C (p.Leu137Pro)
NM_001010874.5(TECRL):c.413G>A (p.Gly138Asp)
NM_001010874.5(TECRL):c.422T>C (p.Val141Ala)
NM_001010874.5(TECRL):c.429G>C (p.Trp143Cys)
NM_001010874.5(TECRL):c.430A>G (p.Thr144Ala)
NM_001010874.5(TECRL):c.435+3_435+6del
NM_001010874.5(TECRL):c.436G>A (p.Val146Met)
NM_001010874.5(TECRL):c.43G>A (p.Ala15Thr)
NM_001010874.5(TECRL):c.452A>G (p.Tyr151Cys)
NM_001010874.5(TECRL):c.455C>T (p.Thr152Ile)
NM_001010874.5(TECRL):c.457G>C (p.Gly153Arg)
NM_001010874.5(TECRL):c.463C>G (p.Leu155Val)
NM_001010874.5(TECRL):c.473A>G (p.Tyr158Cys)
NM_001010874.5(TECRL):c.490A>G (p.Arg164Gly)
NM_001010874.5(TECRL):c.492G>T (p.Arg164Ser)
NM_001010874.5(TECRL):c.523G>A (p.Ala175Thr)
NM_001010874.5(TECRL):c.535C>T (p.Arg179Cys)
NM_001010874.5(TECRL):c.53C>A (p.Ser18Tyr)
NM_001010874.5(TECRL):c.551+4A>G
NM_001010874.5(TECRL):c.560G>T (p.Cys187Phe)
NM_001010874.5(TECRL):c.569A>G (p.His190Arg)
NM_001010874.5(TECRL):c.581A>G (p.Tyr194Cys)
NM_001010874.5(TECRL):c.583A>G (p.Ile195Val)
NM_001010874.5(TECRL):c.628G>A (p.Gly210Arg)
NM_001010874.5(TECRL):c.632A>C (p.His211Pro)
NM_001010874.5(TECRL):c.637C>T (p.Pro213Ser)
NM_001010874.5(TECRL):c.652A>G (p.Ile218Val)
NM_001010874.5(TECRL):c.658-5T>C
NM_001010874.5(TECRL):c.659G>C (p.Ser220Thr)
NM_001010874.5(TECRL):c.665C>T (p.Ala222Val)
NM_001010874.5(TECRL):c.686C>G (p.Ser229Cys)
NM_001010874.5(TECRL):c.686C>T (p.Ser229Phe)
NM_001010874.5(TECRL):c.700T>C (p.Tyr234His)
NM_001010874.5(TECRL):c.703A>G (p.Ile235Val)
NM_001010874.5(TECRL):c.708T>G (p.Asn236Lys)
NM_001010874.5(TECRL):c.709C>A (p.His237Asn)
NM_001010874.5(TECRL):c.70T>C (p.Phe24Leu)
NM_001010874.5(TECRL):c.719A>T (p.Tyr240Phe)
NM_001010874.5(TECRL):c.755T>C (p.Val252Ala)
NM_001010874.5(TECRL):c.774+3A>G
NM_001010874.5(TECRL):c.774+4T>C
NM_001010874.5(TECRL):c.774G>C (p.Leu258=)
NM_001010874.5(TECRL):c.779G>C (p.Cys260Ser)
NM_001010874.5(TECRL):c.788G>T (p.Gly263Val)
NM_001010874.5(TECRL):c.7A>G (p.Lys3Glu)
NM_001010874.5(TECRL):c.806T>C (p.Val269Ala)
NM_001010874.5(TECRL):c.810G>A (p.Met270Ile)
NM_001010874.5(TECRL):c.810G>T (p.Met270Ile)
NM_001010874.5(TECRL):c.819T>A (p.His273Gln)
NM_001010874.5(TECRL):c.824A>G (p.Asn275Ser)
NM_001010874.5(TECRL):c.830C>A (p.Thr277Lys)
NM_001010874.5(TECRL):c.832+3del
NM_001010874.5(TECRL):c.832G>A (p.Gly278Arg)
NM_001010874.5(TECRL):c.835A>G (p.Asn279Asp)
NM_001010874.5(TECRL):c.842C>A (p.Ala281Asp)
NM_001010874.5(TECRL):c.842C>T (p.Ala281Val)
NM_001010874.5(TECRL):c.844T>G (p.Cys282Gly)
NM_001010874.5(TECRL):c.845G>C (p.Cys282Ser)
NM_001010874.5(TECRL):c.853A>T (p.Ser285Cys)
NM_001010874.5(TECRL):c.854G>A (p.Ser285Asn)
NM_001010874.5(TECRL):c.86A>G (p.Asp29Gly)
NM_001010874.5(TECRL):c.874A>T (p.Thr292Ser)
NM_001010874.5(TECRL):c.881T>G (p.Met294Arg)
NM_001010874.5(TECRL):c.884T>A (p.Phe295Tyr)
NM_001010874.5(TECRL):c.908A>G (p.Tyr303Cys)
NM_001010874.5(TECRL):c.90G>C (p.Met30Ile)
NM_001010874.5(TECRL):c.915T>G (p.Tyr305Ter)
NM_001010874.5(TECRL):c.920T>C (p.Ile307Thr)
NM_001010874.5(TECRL):c.923G>T (p.Gly308Val)
NM_001010874.5(TECRL):c.928T>A (p.Trp310Arg)
NM_001010874.5(TECRL):c.92G>T (p.Arg31Ile)
NM_001010874.5(TECRL):c.940A>C (p.Thr314Pro)
NM_001010874.5(TECRL):c.94A>G (p.Asn32Asp)
NM_001010874.5(TECRL):c.956C>T (p.Thr319Ile)
NM_001010874.5(TECRL):c.984G>T (p.Leu328=)
NM_001010874.5(TECRL):c.985A>T (p.Met329Leu)
NM_001010874.5(TECRL):c.998T>A (p.Met333Lys)
NM_001010874.5(TECRL):c.998T>C (p.Met333Thr)

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.