ClinVar Miner

List of variants reported for Myopathy with abnormal lipid metabolism by Genomics England Pilot Project, Genomics England

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter) rs1057518160 0.00002
NM_025207.5(FLAD1):c.797del (p.Glu266fs) rs1657723514 0.00001

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