ClinVar Miner

List of variants in gene combination LOC112449713, PHKB reported as uncertain significance for Glycogen storage disease IXb

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568 0.00109
NM_000293.3(PHKB):c.305+11G>T rs368293023 0.00041
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro) rs773528597 0.00004
NM_000293.3(PHKB):c.229G>A (p.Gly77Ser) rs749953598 0.00004
NM_000293.3(PHKB):c.271G>A (p.Ala91Thr) rs200339326 0.00004
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064 0.00001
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly) rs754835322 0.00001
NM_000293.3(PHKB):c.178T>G (p.Leu60Val)
NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)
NM_000293.3(PHKB):c.211T>G (p.Phe71Val)
NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg) rs886052020
NM_000293.3(PHKB):c.258C>G (p.Asp86Glu) rs147357783
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly) rs776773729
NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)
NM_000293.3(PHKB):c.305+11G>A rs368293023

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