ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.993-1G>T rs763016962 0.00001
NC_000003.11:g.(?_81640178)_(81643184_?)dup
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NM_000158.4(GBE1):c.1108+2T>C
NM_000158.4(GBE1):c.1109-1G>A rs763258786
NM_000158.4(GBE1):c.1109-2A>G
NM_000158.4(GBE1):c.1236+1G>A
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1619-1G>A rs2106872434
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1799_1803+8del
NM_000158.4(GBE1):c.1803+1G>A rs1273791312
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1934+2T>A rs752625236
NM_000158.4(GBE1):c.1934+2T>C
NM_000158.4(GBE1):c.1935-1C>T rs1475447884
NM_000158.4(GBE1):c.1935-2A>G
NM_000158.4(GBE1):c.1935-2del rs2106810015
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.314-1G>C
NM_000158.4(GBE1):c.314-2A>G rs2107114825
NM_000158.4(GBE1):c.430-1G>C
NM_000158.4(GBE1):c.556-1G>A
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.692-1G>A
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000158.4(GBE1):c.993-2A>G

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