List of variants in gene TPM3 reported as benign for congenital fiber-type disproportion myopathy

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152263.4(TPM3):c.776-49T>C	rs4845364	0.62465
NM_152263.4(TPM3):c.*2185C>T	rs10908723	0.31228
NM_152263.4(TPM3):c.*4968A>G	rs4446955	0.30357
NM_152263.4(TPM3):c.*1032T>G	rs6673171	0.29627
NM_152263.4(TPM3):c.*5856T>G	rs3196889	0.29506
NM_152263.4(TPM3):c.*2719G>A	rs11265201	0.14345
NM_152263.4(TPM3):c.*2565G>A	rs6661996	0.14338
NM_152263.4(TPM3):c.*2784C>T	rs9628669	0.14320
NM_152263.4(TPM3):c.*3822G>T	rs12063890	0.13205
NM_152263.4(TPM3):c.*2211A>C	rs6672584	0.12577
NM_152263.4(TPM3):c.*2409G>C	rs142369480	0.01426
NM_152263.4(TPM3):c.*1791G>A	rs114799756	0.01222
NM_152263.4(TPM3):c.*4062G>A	rs140590273	0.00864
NM_152263.4(TPM3):c.*5149G>A	rs78002555	0.00816
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)	rs62000429	0.00596
NM_152263.4(TPM3):c.*2069C>T	rs140536164	0.00588
NM_152263.4(TPM3):c.*4154C>T	rs145053113	0.00572
NM_152263.4(TPM3):c.566+18C>G	rs111368844	0.00505
NM_152263.4(TPM3):c.*3497T>C	rs144544045	0.00465
NM_152263.4(TPM3):c.*878A>G	rs116789181	0.00321
NM_152263.4(TPM3):c.*1291A>G	rs375670563	0.00006
NM_152263.4(TPM3):c.327T>G (p.Thr109=)	rs764255899	0.00005
NM_152263.4(TPM3):c.495+7G>C	rs749792884	0.00004
NM_152263.4(TPM3):c.*1130C>T	rs143058197
NM_152263.4(TPM3):c.*1247dup	rs72189266
NM_152263.4(TPM3):c.243+11GA[2]	rs146969764

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.