ClinVar Miner

List of variants reported as benign for Glycogen storage disease, type VII by Natera, Inc.

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 0.00004
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_000289.6(PFKM):c.1413-58C>A rs78496902

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