ClinVar Miner

List of variants in gene TPM3 reported as benign for cap myopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.776-49T>C rs4845364 0.62465
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.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*2069C>T rs140536164 0.00588
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
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.243+11GA[2] rs146969764

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