ClinVar Miner

List of variants in gene PHKB reported as uncertain significance for Glycogen phosphorylase kinase deficiency

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.*1001del rs775113534 0.03023
NM_000293.3(PHKB):c.77-7del rs754758968 0.00001
NM_000293.3(PHKB):c.*1000del rs11299370
NM_000293.3(PHKB):c.*1311dup rs886052031
NM_000293.3(PHKB):c.*358_*360del rs886052026
NM_000293.3(PHKB):c.*610TA[1] rs201839105
NM_000293.3(PHKB):c.*982del rs886052029
NM_000293.3(PHKB):c.3144+12_3144+13insT rs757614728
NM_000293.3(PHKB):c.3144+12dup rs1555500966
NM_000293.3(PHKB):c.3144+32_3144+34dup rs5816579

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