ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.7+2T>C

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