ClinVar Miner

List of variants in gene TPM3 reported as benign for TPM3-related myopathy

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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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

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