ClinVar Miner

List of variants in gene GYG1 studied for Glycogen storage disease XV

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Total variants: 5
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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.143+3G>C rs370652040 0.00016
NM_004130.4(GYG1):c.248C>T (p.Thr83Met) rs267606858
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.866G>T (p.Gly289Val) rs1553733613

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