ClinVar Miner

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

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Total variants: 50
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HGVS dbSNP
NM_022912.2(REEP1):c.*1015G>A rs17510310
NM_022912.2(REEP1):c.*1026G>A rs76860896
NM_022912.2(REEP1):c.*1085_*1086delCA rs886056408
NM_022912.2(REEP1):c.*1224A>G rs886056407
NM_022912.2(REEP1):c.*1278A>G rs190070319
NM_022912.2(REEP1):c.*1318C>T rs12328643
NM_022912.2(REEP1):c.*1386T>C rs3731816
NM_022912.2(REEP1):c.*1476G>T rs116705276
NM_022912.2(REEP1):c.*155T>C rs141976852
NM_022912.2(REEP1):c.*1580T>C rs886056406
NM_022912.2(REEP1):c.*1675G>A rs3731817
NM_022912.2(REEP1):c.*1914A>T rs886056405
NM_022912.2(REEP1):c.*2053delC rs886056404
NM_022912.2(REEP1):c.*2075_*2077delAAG rs886056403
NM_022912.2(REEP1):c.*2076_*2077delAG rs1553455537
NM_022912.2(REEP1):c.*2076delA rs11350708
NM_022912.2(REEP1):c.*2077_*2078insA rs886056400
NM_022912.2(REEP1):c.*2077delG rs886056401
NM_022912.2(REEP1):c.*2083delA rs886056399
NM_022912.2(REEP1):c.*2110dupT rs200132323
NM_022912.2(REEP1):c.*2111_*2112insT rs886056398
NM_022912.2(REEP1):c.*2192G>A rs58401741
NM_022912.2(REEP1):c.*2250C>A rs558708657
NM_022912.2(REEP1):c.*2261C>A rs772358643
NM_022912.2(REEP1):c.*226delT rs59345004
NM_022912.2(REEP1):c.*2371C>T rs533698310
NM_022912.2(REEP1):c.*2441C>T rs551489805
NM_022912.2(REEP1):c.*2518G>C rs77055865
NM_022912.2(REEP1):c.*2546G>A rs146273697
NM_022912.2(REEP1):c.*2574G>A rs115098584
NM_022912.2(REEP1):c.*2619A>G rs886056397
NM_022912.2(REEP1):c.*2640T>C rs11902617
NM_022912.2(REEP1):c.*2794A>C rs886056396
NM_022912.2(REEP1):c.*2827T>C rs57249135
NM_022912.2(REEP1):c.*2885_*2888dupAACA rs397794472
NM_022912.2(REEP1):c.*2886A>C rs7580424
NM_022912.2(REEP1):c.*2920T>G rs708600
NM_022912.2(REEP1):c.*3056T>C rs17438464
NM_022912.2(REEP1):c.*452_*453delCA rs886056409
NM_022912.2(REEP1):c.*50G>A rs189652973
NM_022912.2(REEP1):c.*691G>A rs60838463
NM_022912.2(REEP1):c.*724G>C rs142894251
NM_022912.2(REEP1):c.*798T>C rs150465452
NM_022912.2(REEP1):c.*967C>T rs140533240
NM_022912.2(REEP1):c.-39_-35dupAGCCG rs544099237
NM_022912.2(REEP1):c.149C>T (p.Thr50Ile) rs886056410
NM_022912.2(REEP1):c.285G>A (p.Thr95=) rs2276625
NM_022912.2(REEP1):c.417+15G>C rs755153738
NM_022912.2(REEP1):c.486C>T (p.Asp162=) rs139806812
NM_022912.2(REEP1):c.582C>T (p.Ser194=) rs540194528

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