ClinVar Miner

List of variants in gene REEP1 studied for Spastic paraplegia, autosomal dominant

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Total variants: 14
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HGVS dbSNP
NM_001371279.1(REEP1):c.*1020_*1021CA[2] rs886056408
NM_001371279.1(REEP1):c.*165del rs59345004
NM_001371279.1(REEP1):c.*1992del rs886056404
NM_001371279.1(REEP1):c.*2014_*2016del rs886056403
NM_001371279.1(REEP1):c.*2015_*2016del rs1553455537
NM_001371279.1(REEP1):c.*2015del rs11350708
NM_001371279.1(REEP1):c.*2016_*2017insA rs886056400
NM_001371279.1(REEP1):c.*2016del rs886056401
NM_001371279.1(REEP1):c.*2022del rs886056399
NM_001371279.1(REEP1):c.*2049dup rs200132323
NM_001371279.1(REEP1):c.*2050_*2051insT rs886056398
NM_001371279.1(REEP1):c.*2824_*2827dup rs397794472
NM_001371279.1(REEP1):c.*389_*390CA[1] rs886056409
NM_001371279.1(REEP1):c.-44_-40AGCCG[3] rs544099237

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