ClinVar Miner

List of variants in gene REEP1 reported as uncertain significance for Spastic paraplegia, autosomal dominant

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Total variants: 20
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HGVS dbSNP
NM_022912.2(REEP1):c.*1085_*1086delCA rs886056408
NM_022912.2(REEP1):c.*1224A>G rs886056407
NM_022912.2(REEP1):c.*1580T>C rs886056406
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.*2077_*2078insA rs886056400
NM_022912.2(REEP1):c.*2077delG rs886056401
NM_022912.2(REEP1):c.*2083delA rs886056399
NM_022912.2(REEP1):c.*2111_*2112insT rs886056398
NM_022912.2(REEP1):c.*2250C>A rs558708657
NM_022912.2(REEP1):c.*2261C>A rs772358643
NM_022912.2(REEP1):c.*2371C>T rs533698310
NM_022912.2(REEP1):c.*2441C>T rs551489805
NM_022912.2(REEP1):c.*2619A>G rs886056397
NM_022912.2(REEP1):c.*2794A>C rs886056396
NM_022912.2(REEP1):c.*452_*453delCA rs886056409
NM_022912.2(REEP1):c.149C>T (p.Thr50Ile) rs886056410
NM_022912.2(REEP1):c.417+15G>C rs755153738

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