ClinVar Miner

List of variants in gene TPM2 reported by TPM2 homepage - Leiden Muscular Dystrophy pages

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003289.4(TPM2):c.115-105A>G rs2145925 0.44964
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.154_156dup (p.Gly52dup) rs199476148
NM_003289.4(TPM2):c.240+2T>G rs113967290
NM_003289.4(TPM2):c.240+4_240+7del rs199476149
NM_003289.4(TPM2):c.240+5G>A rs199476150
NM_003289.4(TPM2):c.271C>G (p.Arg91Gly) rs104894127
NM_003289.4(TPM2):c.278A>G (p.Gln93Arg) rs199476151
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.4(TPM2):c.398G>C (p.Arg133Pro) rs199476152
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.5A>T (p.Asp2Val) rs199476145
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.628C>T (p.Gln210Ter) rs199476154
NM_003289.4(TPM2):c.651AGA[1] (p.Glu218del) rs199476156
NM_003289.4(TPM2):c.699G>T (p.Lys233Asn) rs1804558
NM_003289.4(TPM2):c.773-3dup rs35401252

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.