ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia 48 by Invitae

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_4816199)_4825153del
NM_014855.3(AP5Z1):c.1132+1_1132+3del rs2115114032
NM_014855.3(AP5Z1):c.1509_1595+26del
NM_014855.3(AP5Z1):c.1707+1G>A
NM_014855.3(AP5Z1):c.1806-1G>C
NM_014855.3(AP5Z1):c.41+812_970del
NM_014855.3(AP5Z1):c.931+1G>A rs1583232513
NM_014855.3(AP5Z1):c.970-1G>A
NM_014855.3(AP5Z1):c.970-2A>G
NM_014855.3(AP5Z1):c.970-2_983del rs1562408256

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