ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy by GeneReviews

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_003289.3(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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