ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 31

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ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.33-23A>C rs1863059 0.53145
NM_001371279.1(REEP1):c.417+45T>C rs12988844 0.40638
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39866
NM_001371279.1(REEP1):c.105+26C>T rs1863058 0.37197
NM_001371279.1(REEP1):c.*2859T>G rs708600 0.31997
NM_001371279.1(REEP1):c.*1257C>T rs12328643 0.03924
NM_001371279.1(REEP1):c.*2825A>C rs7580424 0.03801
NM_001371279.1(REEP1):c.*630G>A rs60838463 0.03472
NM_001371279.1(REEP1):c.*2457G>C rs77055865 0.03118
NM_001371279.1(REEP1):c.*2766T>C rs57249135 0.03042
NM_001371279.1(REEP1):c.784-19T>G rs141722767 0.02274
NM_001371279.1(REEP1):c.*2579T>C rs11902617 0.02248
NM_001371279.1(REEP1):c.*1415G>T rs116705276 0.02145
NM_001371279.1(REEP1):c.*94T>C rs141976852 0.02142
NM_001371279.1(REEP1):c.*2513G>A rs115098584 0.02140
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.*1987G>A rs144937908 0.00510
NM_001371279.1(REEP1):c.381C>T (p.Asn127=) rs36008495 0.00419
NM_001371279.1(REEP1):c.486C>T (p.Asp162=) rs139806812 0.00403
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.*1330A>T rs141138007 0.00354
NM_001371279.1(REEP1):c.*2485G>A rs146273697 0.00254
NM_001371279.1(REEP1):c.*1398G>A rs577908626 0.00217
NM_001371279.1(REEP1):c.*2784G>A rs567893414 0.00194
NM_001371279.1(REEP1):c.*663G>C rs142894251 0.00140
NM_001371279.1(REEP1):c.784-16C>T rs182467924 0.00108
NM_001371279.1(REEP1):c.*2434G>C rs535813756 0.00107
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.231G>A (p.Leu77=) rs139808535 0.00070
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001371279.1(REEP1):c.*2310C>T rs533698310 0.00055
NM_001371279.1(REEP1):c.*906C>T rs140533240 0.00051
NM_001371279.1(REEP1):c.32+19C>G rs536482080 0.00050
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.518C>T (p.Pro173Leu) rs777245164 0.00013
NM_001371279.1(REEP1):c.*2200C>A rs772358643 0.00010
NM_001371279.1(REEP1):c.*2380C>T rs551489805 0.00010
NM_001371279.1(REEP1):c.105+10A>G rs776380158 0.00008
NM_001371279.1(REEP1):c.363C>T (p.Phe121=) rs369674332 0.00007
NM_001371279.1(REEP1):c.396G>A (p.Ala132=) rs377712421 0.00007
NM_001371279.1(REEP1):c.*1733T>C rs766272571 0.00006
NM_001371279.1(REEP1):c.106-7T>A rs373564876 0.00006
NM_001371279.1(REEP1):c.*218C>T rs1033340030 0.00005
NM_001371279.1(REEP1):c.106-12C>G rs781321099 0.00005
NM_001371279.1(REEP1):c.33-17G>T rs571249509 0.00005
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser) rs768890728 0.00005
NM_001371279.1(REEP1):c.582C>T (p.Ser194=) rs540194528 0.00005
NM_001371279.1(REEP1):c.270G>A (p.Lys90=) rs141929755 0.00004
NM_001371279.1(REEP1):c.537C>T (p.Ser179=) rs201564869 0.00004
NM_001371279.1(REEP1):c.*2967C>G rs1351975670 0.00003
NM_001371279.1(REEP1):c.144C>T (p.Phe48=) rs753785265 0.00003
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.371G>A (p.Arg124Gln) rs757087677 0.00003
NM_001371279.1(REEP1):c.408T>A (p.Ala136=) rs368965566 0.00003
NM_001371279.1(REEP1):c.418-13G>A rs548141046 0.00003
NM_001371279.1(REEP1):c.418-17T>C rs377683815 0.00003
NM_001371279.1(REEP1):c.418-20C>T rs762395492 0.00003
NM_001371279.1(REEP1):c.544C>T (p.His182Tyr) rs1356444998 0.00003
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys) rs375445585 0.00003
NM_001371279.1(REEP1):c.*2733A>C rs886056396 0.00002
NM_001371279.1(REEP1):c.156G>A (p.Glu52=) rs750019085 0.00002
NM_001371279.1(REEP1):c.489C>T (p.Gly163=) rs750875451 0.00002
NM_001371279.1(REEP1):c.504G>A (p.Ser168=) rs762195996 0.00002
NM_001371279.1(REEP1):c.530G>A (p.Arg177Gln) rs1333042512 0.00002
NM_001371279.1(REEP1):c.595+14T>C rs115971425 0.00002
NM_001371279.1(REEP1):c.715G>A (p.Glu239Lys) rs914629625 0.00002
NM_001371279.1(REEP1):c.*1163A>G rs886056407 0.00001
NM_001371279.1(REEP1):c.*1435G>A rs368970831 0.00001
NM_001371279.1(REEP1):c.*1819G>A rs1173252698 0.00001
NM_001371279.1(REEP1):c.*93G>A rs1486206487 0.00001
NM_001371279.1(REEP1):c.-4C>A rs1368031824 0.00001
NM_001371279.1(REEP1):c.106-11T>C rs2468891243 0.00001
NM_001371279.1(REEP1):c.106-6C>G rs751690452 0.00001
NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly) rs863224189 0.00001
NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile) rs886056410 0.00001
NM_001371279.1(REEP1):c.15C>A (p.Ile5=) rs1213939358 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.220G>T (p.Ala74Ser) rs1214003244 0.00001
NM_001371279.1(REEP1):c.244A>G (p.Lys82Glu) rs934249498 0.00001
NM_001371279.1(REEP1):c.258C>T (p.Leu86=) rs777995127 0.00001
NM_001371279.1(REEP1):c.293C>T (p.Ser98Leu) rs766247706 0.00001
NM_001371279.1(REEP1):c.32+17C>A rs942655720 0.00001
NM_001371279.1(REEP1):c.32+17C>T rs942655720 0.00001
NM_001371279.1(REEP1):c.32+4A>G rs2469203245 0.00001
NM_001371279.1(REEP1):c.336C>T (p.Asp112=) rs867308226 0.00001
NM_001371279.1(REEP1):c.338G>A (p.Arg113Gln) rs985433681 0.00001
NM_001371279.1(REEP1):c.345C>T (p.Tyr115=) rs138656911 0.00001
NM_001371279.1(REEP1):c.353T>C (p.Leu118Pro) rs1553461156 0.00001
NM_001371279.1(REEP1):c.361T>C (p.Phe121Leu) rs1676308997 0.00001
NM_001371279.1(REEP1):c.387C>T (p.Ala129=) rs759952241 0.00001
NM_001371279.1(REEP1):c.388G>A (p.Ala130Thr) rs777316624 0.00001
NM_001371279.1(REEP1):c.391A>G (p.Thr131Ala) rs1558889637 0.00001
NM_001371279.1(REEP1):c.395C>T (p.Ala132Val) rs1235877574 0.00001
NM_001371279.1(REEP1):c.400G>A (p.Val134Met) rs747398780 0.00001
NM_001371279.1(REEP1):c.434C>T (p.Ser145Leu) rs1202869717 0.00001
NM_001371279.1(REEP1):c.435G>A (p.Ser145=) rs769926270 0.00001
NM_001371279.1(REEP1):c.446G>A (p.Arg149Gln) rs896564103 0.00001
NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile) rs754690213 0.00001
NM_001371279.1(REEP1):c.503C>T (p.Ser168Leu) rs757524060 0.00001
NM_001371279.1(REEP1):c.515C>T (p.Pro172Leu) rs201154881 0.00001
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala) rs1279009965 0.00001
NM_001371279.1(REEP1):c.538G>A (p.Gly180Ser) rs748917788 0.00001
NM_001371279.1(REEP1):c.542A>C (p.Lys181Thr) rs1039369434 0.00001
NM_001371279.1(REEP1):c.545A>C (p.His182Pro) rs1675091136 0.00001
NM_001371279.1(REEP1):c.546C>T (p.His182=) rs750448825 0.00001
NM_001371279.1(REEP1):c.569G>A (p.Ser190Asn) rs1425896792 0.00001
NM_001371279.1(REEP1):c.57T>C (p.Pro19=) rs943579285 0.00001
NM_001371279.1(REEP1):c.595+4G>A rs1281247920 0.00001
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr) rs1299952460 0.00001
NM_001371279.1(REEP1):c.784-4C>G rs778272381 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.836C>T (p.Ser279Leu) rs148490065 0.00001
NM_001371279.1(REEP1):c.94A>G (p.Ile32Val) rs745678615 0.00001
NM_001371279.1(REEP1):c.9A>G (p.Ser3=) rs1284381587 0.00001
GRCh37/hg19 2p11.2(chr2:86459682-86509481)x3
NC_000002.11:g.(86444234_86459747)_(86459926_86479079)del
NC_000002.11:g.(86479194_86481816)_(86565146_86564634)dup
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)del
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
NC_000002.11:g.(?_85766411)_(86564633_?)del
NC_000002.11:g.(?_86441116)_(86509365_?)dup
NC_000002.11:g.(?_86444152)_(86444243_?)del
NC_000002.11:g.(?_86444152)_(86509375_?)dup
NC_000002.11:g.(?_86444152)_(86564643_?)del
NC_000002.11:g.(?_86444222)_(86565200_?)del
NC_000002.11:g.(?_86444223)_(86444253_?)del
NC_000002.11:g.(?_86444223)_(86509385_?)dup
NC_000002.11:g.(?_86459728)_(86459945_?)del
NC_000002.11:g.(?_86479060)_(86481957_?)del
NC_000002.11:g.(?_86479060)_(86509385_?)dup
NC_000002.11:g.(?_86509273)_(86564633_?)del
NC_000002.11:g.(?_86565200)_(86481816_86479194)del
NC_000002.12:g.(?_86217019)_(86217130_?)del
NC_000002.12:g.(?_86217029)_(86232812_?)del
NC_000002.12:g.(?_86251947)_(86254824_?)del
NC_000002.12:g.(?_86263945)_(86264061_?)del
NC_000002.12:g.(?_86337469)_(86337520_?)del
NM_001371279.1(REEP1):c.*1119G>A rs1674088022
NM_001371279.1(REEP1):c.*124C>G rs1674140828
NM_001371279.1(REEP1):c.*1519T>C rs886056406
NM_001371279.1(REEP1):c.*1526A>T rs896373341
NM_001371279.1(REEP1):c.*1533G>C rs764271301
NM_001371279.1(REEP1):c.*1568T>A rs1674055590
NM_001371279.1(REEP1):c.*1702C>T rs993162388
NM_001371279.1(REEP1):c.*1853A>T rs886056405
NM_001371279.1(REEP1):c.*2189C>A rs558708657
NM_001371279.1(REEP1):c.*2357A>G rs1674009181
NM_001371279.1(REEP1):c.*2558A>G rs886056397
NM_001371279.1(REEP1):c.*2850T>G rs1673985889
NM_001371279.1(REEP1):c.*2896C>T rs1673982491
NM_001371279.1(REEP1):c.*509T>C rs145058780
NM_001371279.1(REEP1):c.*658C>G rs941801751
NM_001371279.1(REEP1):c.*787G>C rs1674107152
NM_001371279.1(REEP1):c.*864T>C rs1293776179
NM_001371279.1(REEP1):c.-73G>T rs1312748911
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) rs1574077431
NM_001371279.1(REEP1):c.104A>C (p.Tyr35Ser) rs2468982803
NM_001371279.1(REEP1):c.104_105del (p.Tyr35fs)
NM_001371279.1(REEP1):c.105+471_105+472insA rs2104392639
NM_001371279.1(REEP1):c.105+6T>C rs1678132370
NM_001371279.1(REEP1):c.106-17G>T
NM_001371279.1(REEP1):c.106-1G>A
NM_001371279.1(REEP1):c.106-2A>T rs1677010564
NM_001371279.1(REEP1):c.106-4A>G rs1677011138
NM_001371279.1(REEP1):c.106G>A (p.Val36Ile)
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter) rs1060503494
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg) rs1574052888
NM_001371279.1(REEP1):c.122A>G (p.Tyr41Cys) rs2468890877
NM_001371279.1(REEP1):c.123C>G (p.Tyr41Ter)
NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg) rs2468890850
NM_001371279.1(REEP1):c.128_138dup (p.Phe48fs) rs2468890730
NM_001371279.1(REEP1):c.131T>C (p.Ile44Thr) rs2468890818
NM_001371279.1(REEP1):c.137C>T (p.Ala46Val) rs2468890749
NM_001371279.1(REEP1):c.148del (p.Thr50fs) rs2468890649
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys) rs1677004351
NM_001371279.1(REEP1):c.166G>A (p.Asp56Asn) rs1060503493
NM_001371279.1(REEP1):c.166G>C (p.Asp56His) rs1060503493
NM_001371279.1(REEP1):c.16A>C (p.Ile6Leu) rs1681106072
NM_001371279.1(REEP1):c.176T>A (p.Leu59His) rs1553462741
NM_001371279.1(REEP1):c.176T>C (p.Leu59Pro) rs1553462741
NM_001371279.1(REEP1):c.179G>A (p.Cys60Tyr) rs2104302794
NM_001371279.1(REEP1):c.182+16G>A rs760434437
NM_001371279.1(REEP1):c.182+17T>C
NM_001371279.1(REEP1):c.182+4A>G rs2468890231
NM_001371279.1(REEP1):c.182+5G>A rs766166355
NM_001371279.1(REEP1):c.182+5G>C rs766166355
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter) rs1558898568
NM_001371279.1(REEP1):c.183-12C>T rs1676466161
NM_001371279.1(REEP1):c.183-13TC[6] rs1558891883
NM_001371279.1(REEP1):c.183-20G>A rs2468842839
NM_001371279.1(REEP1):c.183-2A>G rs387906264
NM_001371279.1(REEP1):c.191T>C (p.Phe64Ser) rs2468842582
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys) rs1553461508
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter) rs1676463508
NM_001371279.1(REEP1):c.200A>T (p.Glu67Val) rs1553461506
NM_001371279.1(REEP1):c.203T>C (p.Leu68Pro) rs2104244891
NM_001371279.1(REEP1):c.208dup (p.Ile70fs)
NM_001371279.1(REEP1):c.209T>G (p.Ile70Arg) rs1676462330
NM_001371279.1(REEP1):c.211G>A (p.Ala71Thr) rs2468842391
NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter) rs2104244665
NM_001371279.1(REEP1):c.228G>T (p.Leu76=)
NM_001371279.1(REEP1):c.229C>T (p.Leu77=) rs2468842289
NM_001371279.1(REEP1):c.230T>C (p.Leu77Pro) rs2468842275
NM_001371279.1(REEP1):c.248G>T (p.Gly83Val) rs2468842177
NM_001371279.1(REEP1):c.249del (p.Ser84fs) rs2104244515
NM_001371279.1(REEP1):c.250_253delinsCTCT (p.Ser84_Ser85delinsLeuCys) rs1676459756
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs) rs2468842127
NM_001371279.1(REEP1):c.255_266del (p.Ser85_Tyr88del) rs1676458313
NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg) rs2104244362
NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg) rs1360820181
NM_001371279.1(REEP1):c.26T>C (p.Leu9Pro) rs2469203297
NM_001371279.1(REEP1):c.282C>T (p.Pro94=) rs2104244187
NM_001371279.1(REEP1):c.285_286insTCTACATCCCACA (p.Leu96fs)
NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro) rs1553461473
NM_001371279.1(REEP1):c.288A>G (p.Leu96=) rs1390001649
NM_001371279.1(REEP1):c.289T>C (p.Ser97Pro) rs1558891694
NM_001371279.1(REEP1):c.289T>G (p.Ser97Ala) rs1558891694
NM_001371279.1(REEP1):c.298G>A (p.Glu100Lys) rs2104243924
NM_001371279.1(REEP1):c.299_303del (p.Glu100fs) rs2104243887
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr) rs1681107508
NM_001371279.1(REEP1):c.303+13G>T
NM_001371279.1(REEP1):c.303+1G>A
NM_001371279.1(REEP1):c.303+2T>C rs1676453652
NM_001371279.1(REEP1):c.303+6A>G rs755901202
NM_001371279.1(REEP1):c.303+7T>C rs1574039442
NM_001371279.1(REEP1):c.303G>A (p.Lys101=) rs1553461465
NM_001371279.1(REEP1):c.304-1G>C rs2104225081
NM_001371279.1(REEP1):c.304-3C>G rs1676314210
NM_001371279.1(REEP1):c.304-5G>T rs2104225135
NM_001371279.1(REEP1):c.304-9C>T rs771485330
NM_001371279.1(REEP1):c.304G>A (p.Glu102Lys) rs2468827825
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 rs2469203156
NM_001371279.1(REEP1):c.32+19del rs2469203118
NM_001371279.1(REEP1):c.32+1G>T rs1681105619
NM_001371279.1(REEP1):c.32+2T>C rs2469203256
NM_001371279.1(REEP1):c.32+5G>A rs1681105460
NM_001371279.1(REEP1):c.32+6del rs2469203228
NM_001371279.1(REEP1):c.32+7G>T rs2469203219
NM_001371279.1(REEP1):c.32+9675A>G
NM_001371279.1(REEP1):c.322G>A (p.Val108Ile) rs1474498257
NM_001371279.1(REEP1):c.329C>A (p.Ala110Glu) rs1182977563
NM_001371279.1(REEP1):c.33-15C>G rs755373256
NM_001371279.1(REEP1):c.33-16T>A rs2104395246
NM_001371279.1(REEP1):c.33-17G>A rs571249509
NM_001371279.1(REEP1):c.33-18T>C rs2468983632
NM_001371279.1(REEP1):c.33-2A>G rs1574077569
NM_001371279.1(REEP1):c.33-8C>A rs766647344
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter) rs121918263
NM_001371279.1(REEP1):c.340A>G (p.Ser114Gly) rs1249811179
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs) rs1676310949
NM_001371279.1(REEP1):c.341G>A (p.Ser114Asn) rs1676311757
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.346G>A (p.Asp116Asn)
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg) rs1553461156
NM_001371279.1(REEP1):c.355G>T (p.Val119Leu) rs1676309660
NM_001371279.1(REEP1):c.373G>A (p.Gly125Ser) rs1375850288
NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter) rs2468826608
NM_001371279.1(REEP1):c.379A>G (p.Asn127Asp) rs1676306574
NM_001371279.1(REEP1):c.392C>T (p.Thr131Ile) rs1553461131
NM_001371279.1(REEP1):c.411T>G (p.Ala137=)
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter) rs786204081
NM_001371279.1(REEP1):c.417+15G>C rs755153738
NM_001371279.1(REEP1):c.417+1G>A rs2104223296
NM_001371279.1(REEP1):c.417+1G>C rs2104223296
NM_001371279.1(REEP1):c.417+1del rs2468826102
NM_001371279.1(REEP1):c.417+9C>A rs2468825992
NM_001371279.1(REEP1):c.417G>C (p.Lys139Asn) rs2468826116
NM_001371279.1(REEP1):c.418-15C>T rs1343839665
NM_001371279.1(REEP1):c.418-1G>A rs2104054912
NM_001371279.1(REEP1):c.418-2A>C rs2468710100
NM_001371279.1(REEP1):c.418-3C>T rs762291002
NM_001371279.1(REEP1):c.418-597_595+409del
NM_001371279.1(REEP1):c.424G>C (p.Gly142Arg) rs864622642
NM_001371279.1(REEP1):c.437A>G (p.Glu146Gly) rs368685628
NM_001371279.1(REEP1):c.440G>T (p.Arg147Ile) rs1060503497
NM_001371279.1(REEP1):c.441A>G (p.Arg147=) rs2468709633
NM_001371279.1(REEP1):c.442C>T (p.Leu148=)
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp) rs771715116
NM_001371279.1(REEP1):c.449G>A (p.Ser150Asn) rs1675102279
NM_001371279.1(REEP1):c.44G>T (p.Gly15Val) rs2468983362
NM_001371279.1(REEP1):c.450C>T (p.Ser150=)
NM_001371279.1(REEP1):c.457A>C (p.Met153Leu) rs1256261154
NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter) rs2104054009
NM_001371279.1(REEP1):c.470C>T (p.Thr157Ile) rs778360930
NM_001371279.1(REEP1):c.475A>G (p.Ile159Val) rs1675100648
NM_001371279.1(REEP1):c.478_479del (p.Arg160fs) rs1675100341
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371279.1(REEP1):c.490G>A (p.Ala164Thr)
NM_001371279.1(REEP1):c.495del (p.Ala166fs) rs1558875298
NM_001371279.1(REEP1):c.49C>A (p.Leu17Ile) rs1553465460
NM_001371279.1(REEP1):c.4G>A (p.Val2Met) rs898778508
NM_001371279.1(REEP1):c.507C>T (p.Gly169=)
NM_001371279.1(REEP1):c.512del (p.Pro171fs) rs387906263
NM_001371279.1(REEP1):c.515del (p.Pro172fs) rs1574005451
NM_001371279.1(REEP1):c.518C>G (p.Pro173Arg) rs777245164
NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg) rs201564869
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs) rs1064792986
NM_001371279.1(REEP1):c.540C>T (p.Gly180=) rs1218144193
NM_001371279.1(REEP1):c.55C>A (p.Pro19Thr) rs2468983254
NM_001371279.1(REEP1):c.560T>C (p.Met187Thr) rs2468707545
NM_001371279.1(REEP1):c.561G>A (p.Met187Ile) rs1378939892
NM_001371279.1(REEP1):c.567del (p.Ser190fs) rs2104051526
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg) rs1060503496
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu) rs1060503496
NM_001371279.1(REEP1):c.570T>C (p.Ser190=) rs1454076238
NM_001371279.1(REEP1):c.57del (p.Ala20fs) rs2468983226
NM_001371279.1(REEP1):c.582C>A (p.Ser194Arg) rs540194528
NM_001371279.1(REEP1):c.583G>A (p.Ala195Thr) rs757800031
NM_001371279.1(REEP1):c.583G>T (p.Ala195Ser) rs757800031
NM_001371279.1(REEP1):c.58G>T (p.Ala20Ser)
NM_001371279.1(REEP1):c.594A>T (p.Ser198=)
NM_001371279.1(REEP1):c.595+1G>A rs869312880
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371279.1(REEP1):c.59C>T (p.Ala20Val) rs121918262
NM_001371279.1(REEP1):c.60G>A (p.Ala20=) rs186480337
NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter) rs2468983090
NM_001371279.1(REEP1):c.74dup (p.Ala26fs) rs2104394867
NM_001371279.1(REEP1):c.784-18_784-15del rs760605373
NM_001371279.1(REEP1):c.784-20_784-19delinsTG rs2103944805
NM_001371279.1(REEP1):c.791del (p.Pro264fs) rs1558863350
NM_001371279.1(REEP1):c.792T>C (p.Pro264=)
NM_001371279.1(REEP1):c.792T>G (p.Pro264=) rs2103944449
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) rs587781248
NM_001371279.1(REEP1):c.794G>A (p.Arg265Lys) rs2103944404
NM_001371279.1(REEP1):c.88A>C (p.Lys30Gln) rs1434743601
NM_001371279.1(REEP1):c.94A>T (p.Ile32Phe) rs745678615
NM_022912.2(REEP1):c.106delG rs2468891033

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