ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 31

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ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.*2457G>C rs77055865 0.03118
NM_001371279.1(REEP1):c.*1415G>T rs116705276 0.02275
NM_001371279.1(REEP1):c.*94T>C rs141976852 0.02270
NM_001371279.1(REEP1):c.*2513G>A rs115098584 0.02268
NM_001371279.1(REEP1):c.*2579T>C rs11902617 0.02248
NM_001371279.1(REEP1):c.*954G>A rs17510310 0.01856
NM_001371279.1(REEP1):c.*2995T>C rs17438464 0.01493
NM_001371279.1(REEP1):c.*737T>C rs150465452 0.01271
NM_001371279.1(REEP1):c.*2131G>A rs58401741 0.01166
NM_001371279.1(REEP1):c.*965G>A rs76860896 0.01007
NM_001371279.1(REEP1):c.*1325T>C rs3731816 0.00394
NM_001371279.1(REEP1):c.*1614G>A rs3731817 0.00389
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp) rs144874997 0.00084
NM_001371279.1(REEP1):c.*1217A>G rs190070319 0.00083
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_001371279.1(REEP1):c.519G>A (p.Pro173=) rs376647453 0.00018
NM_001371279.1(REEP1):c.483A>G (p.Gly161=) rs373854674 0.00015
NM_001371279.1(REEP1):c.105+10A>G rs776380158 0.00008
NM_001371279.1(REEP1):c.396G>A (p.Ala132=) rs377712421 0.00007
NM_001371279.1(REEP1):c.106-7T>A rs373564876 0.00006
NM_001371279.1(REEP1):c.363C>T (p.Phe121=) rs369674332 0.00006
NM_001371279.1(REEP1):c.33-17G>T rs571249509 0.00005
NM_001371279.1(REEP1):c.537C>T (p.Ser179=) rs201564869 0.00005
NM_001371279.1(REEP1):c.582C>T (p.Ser194=) rs540194528 0.00005
NM_001371279.1(REEP1):c.144C>T (p.Phe48=) rs753785265 0.00004
NM_001371279.1(REEP1):c.270G>A (p.Lys90=) rs141929755 0.00004
NM_001371279.1(REEP1):c.182+20G>A rs367979322 0.00003
NM_001371279.1(REEP1):c.240C>T (p.Tyr80=) rs757562400 0.00003
NM_001371279.1(REEP1):c.304-9C>G rs771485330 0.00003
NM_001371279.1(REEP1):c.345C>T (p.Tyr115=) rs138656911 0.00003
NM_001371279.1(REEP1):c.418-13G>A rs548141046 0.00003
NM_001371279.1(REEP1):c.418-20C>T rs762395492 0.00003
NM_001371279.1(REEP1):c.156G>A (p.Glu52=) rs750019085 0.00002
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00002
NM_001371279.1(REEP1):c.489C>T (p.Gly163=) rs750875451 0.00002
NM_001371279.1(REEP1):c.106-6C>G rs751690452 0.00001
NM_001371279.1(REEP1):c.183-8C>G rs1405827641 0.00001
NM_001371279.1(REEP1):c.198T>C (p.Tyr66=) rs1444613668 0.00001
NM_001371279.1(REEP1):c.336C>T (p.Asp112=) rs867308226 0.00001
NM_001371279.1(REEP1):c.435G>A (p.Ser145=) rs769926270 0.00001
NM_001371279.1(REEP1):c.57T>C (p.Pro19=) rs943579285 0.00001
NM_001371279.1(REEP1):c.595+14T>C rs115971425 0.00001
NM_001371279.1(REEP1):c.784-5A>G rs1356865335 0.00001
NM_001371279.1(REEP1):c.788C>T (p.Pro263Leu) rs758721888 0.00001
NM_001371279.1(REEP1):c.9A>G (p.Ser3=) rs1284381587 0.00001
NM_001371279.1(REEP1):c.106-11T>C
NM_001371279.1(REEP1):c.106-17G>T
NM_001371279.1(REEP1):c.15C>A (p.Ile5=)
NM_001371279.1(REEP1):c.182+16G>A
NM_001371279.1(REEP1):c.182+17T>C
NM_001371279.1(REEP1):c.183-12C>T
NM_001371279.1(REEP1):c.183-13TC[6] rs1558891883
NM_001371279.1(REEP1):c.183-20G>A
NM_001371279.1(REEP1):c.228G>T (p.Leu76=)
NM_001371279.1(REEP1):c.229C>T (p.Leu77=)
NM_001371279.1(REEP1):c.258C>T (p.Leu86=)
NM_001371279.1(REEP1):c.282C>T (p.Pro94=) rs2104244187
NM_001371279.1(REEP1):c.288A>G (p.Leu96=)
NM_001371279.1(REEP1):c.303+13G>T
NM_001371279.1(REEP1):c.303+7T>C rs1574039442
NM_001371279.1(REEP1):c.304-5G>T rs2104225135
NM_001371279.1(REEP1):c.304-9C>T rs771485330
NM_001371279.1(REEP1):c.309C>A (p.Ile103=) rs551468138
NM_001371279.1(REEP1):c.309C>T (p.Ile103=) rs551468138
NM_001371279.1(REEP1):c.32+14T>A rs1057522806
NM_001371279.1(REEP1):c.32+16C>T
NM_001371279.1(REEP1):c.32+17C>A
NM_001371279.1(REEP1):c.32+17C>T rs942655720
NM_001371279.1(REEP1):c.32+7G>T
NM_001371279.1(REEP1):c.33-15C>G
NM_001371279.1(REEP1):c.33-16T>A rs2104395246
NM_001371279.1(REEP1):c.33-17G>A
NM_001371279.1(REEP1):c.33-18T>C
NM_001371279.1(REEP1):c.33-8C>A
NM_001371279.1(REEP1):c.387C>T (p.Ala129=)
NM_001371279.1(REEP1):c.411T>G (p.Ala137=)
NM_001371279.1(REEP1):c.417+9C>A
NM_001371279.1(REEP1):c.418-15C>T
NM_001371279.1(REEP1):c.418-17T>C
NM_001371279.1(REEP1):c.441A>G (p.Arg147=)
NM_001371279.1(REEP1):c.442C>T (p.Leu148=)
NM_001371279.1(REEP1):c.450C>T (p.Ser150=)
NM_001371279.1(REEP1):c.504G>A (p.Ser168=)
NM_001371279.1(REEP1):c.507C>T (p.Gly169=)
NM_001371279.1(REEP1):c.540C>T (p.Gly180=) rs1218144193
NM_001371279.1(REEP1):c.546C>T (p.His182=)
NM_001371279.1(REEP1):c.570T>C (p.Ser190=) rs1454076238
NM_001371279.1(REEP1):c.784-20_784-19delinsTG rs2103944805
NM_001371279.1(REEP1):c.784-4C>G
NM_001371279.1(REEP1):c.794G>A (p.Arg265Lys) rs2103944404

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