List of variants in gene TPM1 reported as uncertain significance by Blueprint 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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)	rs144045691	0.00052
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00002
NM_001018005.2(TPM1):c.115-261C>T	rs746952638	0.00001
NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly)	rs757577112	0.00001
NM_001018005.2(TPM1):c.14AGA[2] (p.Lys7del)	rs730881155
NM_001018005.2(TPM1):c.17A>G (p.Lys6Arg)	rs900504800
NM_001018005.2(TPM1):c.202C>A (p.Gln68Lys)	rs1596303228
NM_001018005.2(TPM1):c.428T>A (p.Ile143Asn)	rs730881136
NM_001018005.2(TPM1):c.44A>G (p.Lys15Arg)	rs869025539
NM_001018005.2(TPM1):c.563+10_563+13delinsACCA	rs1596378275
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp)	rs786204412
NM_001018005.2(TPM1):c.77A>G (p.Glu26Gly)	rs730880234
NM_001018005.2(TPM1):c.835A>C (p.Asn279His)	rs397516392

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.