ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 2 by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004130.4(GYG1):c.7+1G>A	rs949456055	0.00002
NM_004130.4(GYG1):c.487del (p.Asp163fs)	rs727502871

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