ClinVar Miner

List of variants reported for Axial myopathy, late-onset by CSER _CC_NCGL, University of Washington

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr) rs376338203 0.00002

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