List of variants in gene TPP1 reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.381-10dup	rs146315473	0.02726
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	rs121908202	0.00002
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)	rs28940573	0.00001
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)	rs1564854760
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)	rs2134598107
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)	rs864309505
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)	rs1057516264
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)	rs2134590423
NM_000391.4(TPP1):c.184del (p.Ser62fs)	rs1554902217
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)	rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)	rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)	rs553522118
NM_000391.4(TPP1):c.689del (p.Phe230fs)	rs1554901898

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.