ClinVar Miner

List of variants studied for Glycogen storage disease due to hepatic glycogen synthase deficiency by Nilou-Genome Lab

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Total variants: 7
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HGVS dbSNP
NM_021957.4(GYS2):c.*6A>T rs10431213
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_021957.4(GYS2):c.1169+12A>T rs4639981
NM_021957.4(GYS2):c.1229+11G>A rs1871137
NM_021957.4(GYS2):c.1229+40T>C rs1871136
NM_021957.4(GYS2):c.1422+23C>G rs7977474
NM_021957.4(GYS2):c.1890+25del rs36023861

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