ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 48 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) rs373919408 0.00009
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp) rs761451474 0.00001
NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs) rs397704709
NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter) rs1057519342
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) rs397704705

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