ClinVar Miner

List of variants reported as likely benign for TPM3-related myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.*3248G>A rs12026177 0.15247
NM_152263.4(TPM3):c.*389G>A rs74731791 0.01922
NM_152263.4(TPM3):c.*4333A>G rs34629044 0.01027
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.*4154C>T rs145053113 0.00572
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.*780A>G rs185779007 0.00287
NM_152263.4(TPM3):c.*5640C>T rs564296987 0.00257
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_152263.4(TPM3):c.*5701C>T rs373631033 0.00018
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_152263.4(TPM3):c.*1152C>T rs535068015 0.00001
NM_152263.4(TPM3):c.*4940C>G rs562373211 0.00001
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_152263.4(TPM3):c.*1130C>T rs143058197
NM_152263.4(TPM3):c.*1246_*1247dup rs72189266
NM_152263.4(TPM3):c.*2147del rs68185418
NM_152263.4(TPM3):c.*5594G>T rs550606876

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