ClinVar Miner

List of variants studied for Myopathy, centronuclear, 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.6692C>A (p.Pro2231His) rs183551699 0.01350
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369

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