List of variants in gene TPP1 reported as likely benign for brain disorder

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.1266+5G>A	rs1800753	0.01932
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	rs35706972	0.00982
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	rs117942457	0.00902
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)	rs1800746	0.00889
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)	rs112812685	0.00817
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)	rs2734715	0.00549
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	rs138744051	0.00456
NM_000391.4(TPP1):c.*986C>G	rs188148381	0.00455
NM_000391.4(TPP1):c.1396G>A (p.Val466Met)	rs78970155	0.00339
NM_000391.4(TPP1):c.840G>C (p.Leu280=)	rs140349036	0.00257
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	rs200138397	0.00018
NM_000391.4(TPP1):c.330G>A (p.Lys110=)	rs145853102	0.00014
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	rs141482368	0.00007
NM_000391.4(TPP1):c.1125C>T (p.Arg375=)	rs587780972	0.00005
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	rs577520250	0.00002
NM_000391.4(TPP1):c.1552-9C>T	rs369699167	0.00002
NM_000391.4(TPP1):c.435T>C (p.Pro145=)	rs188822344	0.00001
NM_000391.4(TPP1):c.1267-56_1267-37del	rs1554901606

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.