ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Center for Genetic Medicine Research,Children's National Medical Center

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_003289.3(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854

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