ClinVar Miner

List of variants reported as benign for Glycogen storage disease, type I

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.-420G>C rs2846281 0.80326
NM_001164277.1(SLC37A4):c.-755T>A rs1784559 0.50768
NM_001164277.2(SLC37A4):c.-516G>A rs3759012 0.44121
NM_001164277.2(SLC37A4):c.*125G>C rs8301 0.28518
NM_001164277.2(SLC37A4):c.*418T>C rs11006 0.18616
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] rs397717945
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748

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