ClinVar Miner

List of variants in gene AP5Z1, LOC129997864 studied for Hereditary spastic paraplegia 48

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.*953T>C rs11976063 0.11462
NM_014855.3(AP5Z1):c.*922C>T rs11971749 0.04290
NM_014855.3(AP5Z1):c.*856G>A rs148032002 0.01546
NM_014855.3(AP5Z1):c.*901C>T rs112176131 0.01465
NM_014855.3(AP5Z1):c.*897G>A rs572278037 0.00383
NM_014855.3(AP5Z1):c.*910G>A rs773520179 0.00226
NM_014855.3(AP5Z1):c.*896C>T rs886062356 0.00010
NM_014855.3(AP5Z1):c.*880C>T rs535535946
NM_014855.3(AP5Z1):c.*940T>A rs1219881668
NM_014855.3(AP5Z1):c.*965C>G rs1337568762

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