ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.3(ACTA1):c.809-2A>T rs1301902450
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_003289.3(TPM2):c.269G>A (p.Arg90His) rs1563929454

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