ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001100.3(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.3(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.3(ACTA1):c.82G>C (p.Ala28Pro)
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214

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