ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 48 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys) rs748913228 0.00002
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys) rs754594403 0.00001
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln) rs778734781 0.00001
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800

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