ClinVar Miner

List of variants in gene GYG1 reported as pathogenic for Glycogen storage disease XV; Polyglucosan body myopathy 2

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Total variants: 5
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HGVS dbSNP
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) rs1559834349
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004130.4(GYG1):c.631del (p.Val211fs)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)

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