ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_024334.2(TMEM43):c.1000+5G>T rs376589026
NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.2(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617
NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224
NM_024334.2(TMEM43):c.13T>C (p.Tyr5His) rs727505249
NM_024334.2(TMEM43):c.163-1G>C rs1060499911
NM_024334.2(TMEM43):c.166C>T (p.Arg56Cys) rs201094625
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.280G>A (p.Ala94Thr) rs369142200
NM_024334.2(TMEM43):c.323T>C (p.Val108Ala) rs182351748
NM_024334.2(TMEM43):c.361A>G (p.Met121Val) rs369878538
NM_024334.2(TMEM43):c.392+4A>G rs397517382
NM_024334.2(TMEM43):c.413A>G (p.Gln138Arg) rs397517384
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.428C>T (p.Thr143Met) rs544554435
NM_024334.2(TMEM43):c.484G>A (p.Asp162Asn) rs150425166
NM_024334.2(TMEM43):c.486_489del (p.Asp162fs) rs1060499910
NM_024334.2(TMEM43):c.520G>A (p.Ala174Thr) rs397517385
NM_024334.2(TMEM43):c.583+3A>G rs876658021
NM_024334.2(TMEM43):c.625T>G (p.Ser209Ala) rs397517386
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.803G>A
NM_024334.2(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.2(TMEM43):c.883-15C>A rs727504984
NM_024334.2(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.2(TMEM43):c.961A>G (p.Met321Val) rs397517387

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.