ClinVar Miner

List of variants in gene REEP1 reported as uncertain significance for hereditary spastic paraplegia 31

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001371279.1(REEP1):c.*2434G>C rs535813756 0.00107
NM_001371279.1(REEP1):c.*2310C>T rs533698310 0.00055
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu) rs777245164 0.00014
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.*1733T>C rs766272571 0.00007
NM_001371279.1(REEP1):c.*218C>T rs1033340030 0.00005
NM_001371279.1(REEP1):c.537C>T (p.Ser179=) rs201564869 0.00005
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser) rs768890728 0.00005
NM_001371279.1(REEP1):c.*2967C>G rs1351975670 0.00003
NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln) rs757087677 0.00003
NM_001371279.1(REEP1):c.*2733A>C rs886056396 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.10T>G (p.Trp4Gly) rs863224189 0.00001
NM_001371279.1(REEP1):c.293C>T (p.Ser98Leu) rs766247706 0.00001
NM_001371279.1(REEP1):c.338G>A (p.Arg113Gln) rs985433681 0.00001
NM_001371279.1(REEP1):c.353T>C (p.Leu118Pro) rs1553461156 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.400G>A (p.Val134Met) rs747398780 0.00001
NM_001371279.1(REEP1):c.446G>A (p.Arg149Gln) rs896564103 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.545A>C (p.His182Pro) rs1675091136 0.00001
NM_001371279.1(REEP1):c.569G>A (p.Ser190Asn) rs1425896792 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
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup
NC_000002.11:g.(?_86444152)_(86444243_?)del
NC_000002.11:g.(?_86444223)_(86444253_?)del
NC_000002.11:g.(?_86444223)_(86509385_?)dup
NC_000002.11:g.(?_86459728)_(86459945_?)del
NC_000002.12:g.(?_86217019)_(86217130_?)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.*658C>G rs941801751
NM_001371279.1(REEP1):c.*787G>C rs1674107152
NM_001371279.1(REEP1):c.*864T>C rs1293776179
NM_001371279.1(REEP1):c.-4C>A rs1368031824
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)
NM_001371279.1(REEP1):c.105+6T>C rs1678132370
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg) rs1574052888
NM_001371279.1(REEP1):c.122A>G (p.Tyr41Cys)
NM_001371279.1(REEP1):c.131T>C (p.Ile44Thr)
NM_001371279.1(REEP1):c.137C>T (p.Ala46Val)
NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile) rs886056410
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.16A>C (p.Ile6Leu) rs1681106072
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+4A>G
NM_001371279.1(REEP1):c.182+5G>A rs766166355
NM_001371279.1(REEP1):c.191T>C (p.Phe64Ser)
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys) rs1553461508
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.209T>G (p.Ile70Arg) rs1676462330
NM_001371279.1(REEP1):c.211G>A (p.Ala71Thr)
NM_001371279.1(REEP1):c.220G>T (p.Ala74Ser)
NM_001371279.1(REEP1):c.230T>C (p.Leu77Pro)
NM_001371279.1(REEP1):c.244A>G (p.Lys82Glu) rs934249498
NM_001371279.1(REEP1):c.250_253delinsCTCT (p.Ser84_Ser85delinsLeuCys) rs1676459756
NM_001371279.1(REEP1):c.255_266del (p.Ser85_Tyr88del) rs1676458313
NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg)
NM_001371279.1(REEP1):c.26T>C (p.Leu9Pro)
NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro) rs1553461473
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.303+6A>G rs755901202
NM_001371279.1(REEP1):c.303G>A (p.Lys101=)
NM_001371279.1(REEP1):c.304-3C>G rs1676314210
NM_001371279.1(REEP1):c.304G>A (p.Glu102Lys)
NM_001371279.1(REEP1):c.32+4A>G
NM_001371279.1(REEP1):c.32+5G>A rs1681105460
NM_001371279.1(REEP1):c.32+6del
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.340A>G (p.Ser114Gly)
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.353T>G (p.Leu118Arg) rs1553461156
NM_001371279.1(REEP1):c.355G>T (p.Val119Leu) rs1676309660
NM_001371279.1(REEP1):c.361T>C (p.Phe121Leu)
NM_001371279.1(REEP1):c.373G>A (p.Gly125Ser) rs1375850288
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.395C>T (p.Ala132Val)
NM_001371279.1(REEP1):c.417+15G>C rs755153738
NM_001371279.1(REEP1):c.417G>C (p.Lys139Asn)
NM_001371279.1(REEP1):c.418-3C>T rs762291002
NM_001371279.1(REEP1):c.424G>C (p.Gly142Arg) rs864622642
NM_001371279.1(REEP1):c.437A>G (p.Glu146Gly)
NM_001371279.1(REEP1):c.440G>T (p.Arg147Ile) rs1060503497
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.457A>C (p.Met153Leu)
NM_001371279.1(REEP1):c.470C>T (p.Thr157Ile)
NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile)
NM_001371279.1(REEP1):c.475A>G (p.Ile159Val)
NM_001371279.1(REEP1):c.478_479del (p.Arg160fs) rs1675100341
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
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.503C>T (p.Ser168Leu)
NM_001371279.1(REEP1):c.515C>T (p.Pro172Leu)
NM_001371279.1(REEP1):c.518C>G (p.Pro173Arg)
NM_001371279.1(REEP1):c.530G>A (p.Arg177Gln)
NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg) rs201564869
NM_001371279.1(REEP1):c.542A>C (p.Lys181Thr) rs1039369434
NM_001371279.1(REEP1):c.560T>C (p.Met187Thr)
NM_001371279.1(REEP1):c.561G>A (p.Met187Ile) rs1378939892
NM_001371279.1(REEP1):c.567del (p.Ser190fs) rs2104051526
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.595+4G>A
NM_001371279.1(REEP1):c.715G>A (p.Glu239Lys)
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr) rs1299952460
NM_001371279.1(REEP1):c.791del (p.Pro264fs) rs1558863350
NM_001371279.1(REEP1):c.792T>G (p.Pro264=) rs2103944449
NM_001371279.1(REEP1):c.88A>C (p.Lys30Gln) rs1434743601
NM_001371279.1(REEP1):c.94A>T (p.Ile32Phe)

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