List of variants in gene TMEM43 reported as benign by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)	rs2340917	0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)	rs4685076	0.29043
NM_024334.3(TMEM43):c.909C>T (p.Ser303=)	rs35100587	0.02012
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)	rs113449357	0.01077
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)	rs34099410	0.00841
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)	rs35924492	0.00660
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)	rs11924644	0.00629
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)	rs36083134	0.00599
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)	rs35028636	0.00535
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)	rs150425166	0.00035
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)	rs116911972	0.00024
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)	rs143535006	0.00021
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)	rs369142200	0.00014
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)	rs367910936	0.00013
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)	rs754536393	0.00011
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)	rs201138253	0.00006
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu)	rs369779779	0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)	rs199526104	0.00004
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)	rs140347235	0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)	rs533275736	0.00003
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)	rs182351748	0.00002
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn)	rs138182276	0.00002
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)	rs756256793	0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=)	rs376098518	0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)	rs562700595	0.00001
NM_024334.3(TMEM43):c.163-3del	rs371706980
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)	rs147319971
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln)	rs759676847

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.