ClinVar Miner

List of variants in gene TPM2 reported as pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_213674.1(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_213674.1(TPM2):c.142_144AAG[1] (p.Lys49del) rs199476147
NM_213674.1(TPM2):c.14_16AGA[2] (p.Lys7del) rs199476146
NM_213674.1(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_213674.1(TPM2):c.412_414GAG[1] (p.Glu139del) rs199476153
NM_213674.1(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_213674.1(TPM2):c.640-215C>G rs137853307

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