ClinVar Miner

List of variants reported as likely pathogenic for disorder of glycogen metabolism by Mendelics

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NC_000001.10:g.100330092T>A rs794729208
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_002637.4(PHKA1):c.919-2A>G rs2147766482
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633

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