ClinVar Miner

List of variants in gene TPM1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.289G>C (p.Glu97Gln) rs1064793284
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.410A>T (p.Asp137Val) rs730881134
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr) rs730881159
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001018005.2(TPM1):c.743A>C (p.Lys248Thr) rs730881160
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala) rs886039444

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.