ClinVar Miner

List of variants in gene REEP1 reported as likely benign for Spastic paraplegia, autosomal dominant

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_001164731.2(REEP1):c.*1015G>A rs17510310
NM_001164731.2(REEP1):c.*1026G>A rs76860896
NM_001164731.2(REEP1):c.*1278A>G rs190070319
NM_001164731.2(REEP1):c.*1386T>C rs3731816
NM_001164731.2(REEP1):c.*1476G>T rs116705276
NM_001164731.2(REEP1):c.*155T>C rs141976852
NM_001164731.2(REEP1):c.*1675G>A rs3731817
NM_001164731.2(REEP1):c.*2192G>A rs58401741
NM_001164731.2(REEP1):c.*226del rs59345004
NM_001164731.2(REEP1):c.*2518G>C rs77055865
NM_001164731.2(REEP1):c.*2546G>A rs146273697
NM_001164731.2(REEP1):c.*2574G>A rs115098584
NM_001164731.2(REEP1):c.*2640T>C rs11902617
NM_001164731.2(REEP1):c.*3056T>C rs17438464
NM_001164731.2(REEP1):c.*50G>A rs189652973
NM_001164731.2(REEP1):c.*724G>C rs142894251
NM_001164731.2(REEP1):c.*798T>C rs150465452
NM_001164731.2(REEP1):c.*967C>T rs140533240
NM_001164731.2(REEP1):c.405C>T (p.Asp135=) rs139806812
NM_001164731.2(REEP1):c.501C>T (p.Ser167=) rs540194528

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