ClinVar Miner

List of variants in gene NDRG1 studied for Charcot-Marie-Tooth disease type 4D

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_006096.4(NDRG1):c.*956T>C rs1049697 0.83830
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_006096.4(NDRG1):c.538-132G>C rs2272650 0.41873
NM_006096.4(NDRG1):c.*691G>A rs1049694 0.32591
NM_006096.4(NDRG1):c.450+61A>G rs2272651 0.29847
NM_006096.4(NDRG1):c.855+148T>C rs2233339 0.26454
NM_006096.4(NDRG1):c.698+84A>G rs11575973 0.10802
NM_006096.4(NDRG1):c.891+39C>A rs2233341 0.09513
NM_006096.4(NDRG1):c.*711C>T rs16904866 0.04897
NM_006096.4(NDRG1):c.*834T>A rs79281324 0.03589
NM_006096.4(NDRG1):c.*866A>T rs16904865 0.03230
NM_006096.4(NDRG1):c.389+82G>T rs2233329 0.03173
NM_006096.4(NDRG1):c.*1622T>G rs7825439 0.02986
NM_006096.4(NDRG1):c.*264C>G rs73711834 0.02269
NM_006096.4(NDRG1):c.*100G>A rs2233348 0.01904
NM_006096.4(NDRG1):c.*1135G>A rs10675 0.01865
NM_006096.4(NDRG1):c.*653T>C rs147301529 0.01388
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_006096.4(NDRG1):c.*69C>T rs114738844 0.01142
NM_006096.4(NDRG1):c.*1294T>C rs144034977 0.00858
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_006096.4(NDRG1):c.-18-2_-18-1del rs371927413 0.00490
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_006096.4(NDRG1):c.*1300G>C rs557737109 0.00092
NM_006096.4(NDRG1):c.*31T>G rs573564976 0.00084
NM_006096.4(NDRG1):c.122A>G (p.His41Arg) rs2233318 0.00054
NM_006096.4(NDRG1):c.891+5G>A rs150968034 0.00044
NM_006096.4(NDRG1):c.944-13C>T rs753312340 0.00039
NM_006096.3(NDRG1):c.*1706G>A rs781277187 0.00032
NM_006096.4(NDRG1):c.-19+14C>G rs886062716 0.00029
NM_006096.4(NDRG1):c.*1473G>A rs187466317 0.00026
NM_006096.4(NDRG1):c.*525G>A rs185153183 0.00025
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_006096.4(NDRG1):c.*1340G>A rs12668 0.00022
NM_006096.4(NDRG1):c.613G>A (p.Val205Met) rs138839833 0.00021
NM_006096.4(NDRG1):c.63+6T>C rs199597649 0.00020
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168 0.00019
NM_006096.4(NDRG1):c.*1339C>T rs539924589 0.00015
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser) rs199995009 0.00015
NM_006096.4(NDRG1):c.*677C>T rs886062712 0.00014
NM_006096.4(NDRG1):c.*2C>T rs200367524 0.00013
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) rs191237702 0.00013
NM_006096.4(NDRG1):c.-8G>A rs200465804 0.00010
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) rs745520295 0.00010
NM_006096.4(NDRG1):c.*1299C>T rs926267815 0.00009
NM_006096.4(NDRG1):c.663C>T (p.Pro221=) rs377225752 0.00009
NM_006096.4(NDRG1):c.*402C>T rs551081194 0.00007
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=) rs201959970 0.00007
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys) rs142426003 0.00007
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022 0.00007
NM_006096.4(NDRG1):c.431A>G (p.Tyr144Cys) rs139220402 0.00007
NM_006096.4(NDRG1):c.205C>T (p.His69Tyr) rs373590447 0.00006
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) rs200328537 0.00006
NM_006096.4(NDRG1):c.537+18C>T rs779638529 0.00006
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=) rs774605205 0.00004
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser) rs200433822 0.00004
NM_006096.4(NDRG1):c.594+9C>T rs373172944 0.00004
NM_006096.4(NDRG1):c.*1195G>T rs561506934 0.00003
NM_006096.4(NDRG1):c.*306C>T rs886062714 0.00003
NM_006096.4(NDRG1):c.*377G>A rs377385607 0.00003
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys) rs530143616 0.00003
NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln) rs151322132 0.00003
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile) rs200593999 0.00003
NM_006096.4(NDRG1):c.*184G>A rs778104868 0.00002
NM_006096.4(NDRG1):c.*791C>T rs1174133451 0.00002
NM_006096.4(NDRG1):c.*91G>A rs926781207 0.00002
NM_006096.4(NDRG1):c.100-3C>T rs775475505 0.00002
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys) rs777244818 0.00002
NM_006096.4(NDRG1):c.1081C>T (p.Arg361Cys) rs779065972 0.00002
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg) rs768918074 0.00002
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) rs781381539 0.00002
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) rs138285479 0.00002
NM_006096.4(NDRG1):c.894G>A (p.Pro298=) rs368061370 0.00002
NM_006096.4(NDRG1):c.904G>A (p.Ala302Thr) rs373637595 0.00002
NM_006096.4(NDRG1):c.*1621C>T rs1465673240 0.00001
NM_006096.4(NDRG1):c.*201A>T rs886062715 0.00001
NM_006096.4(NDRG1):c.*228G>A rs1489186863 0.00001
NM_006096.4(NDRG1):c.*392G>A rs562723755 0.00001
NM_006096.4(NDRG1):c.*48C>A rs1390985905 0.00001
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His) rs144714216 0.00001
NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp) rs1209851405 0.00001
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) rs1282857383 0.00001
NM_006096.4(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151 0.00001
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058 0.00001
NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu) rs767058269 0.00001
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714 0.00001
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met) rs756570592 0.00001
NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp) rs769720211 0.00001
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser) rs780329667 0.00001
NM_006096.4(NDRG1):c.205+1G>A rs1060503092 0.00001
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His) rs368584363 0.00001
NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957 0.00001
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr) rs144310406 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) rs748782766 0.00001
NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu) rs779194865 0.00001
NM_006096.4(NDRG1):c.582C>G (p.His194Gln) rs1305919985 0.00001
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) rs1295024326 0.00001
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val) rs1390282778 0.00001
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp) rs537161398 0.00001
NM_006096.4(NDRG1):c.855+8G>A rs776826543 0.00001
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg) rs1337997229 0.00001
NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg) rs1033985666 0.00001
NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu) rs904186690 0.00001
NM_006096.4(NDRG1):c.965G>A (p.Arg322His) rs1307068606 0.00001
NM_006096.4(NDRG1):c.987C>T (p.Ala329=) rs778770054 0.00001
NM_006096.4(NDRG1):c.*1179G>C rs1041250053
NM_006096.4(NDRG1):c.*1296C>T rs886062711
NM_006096.4(NDRG1):c.*1361C>A rs887335765
NM_006096.4(NDRG1):c.*308C>T rs995056665
NM_006096.4(NDRG1):c.*403G>A rs954177065
NM_006096.4(NDRG1):c.*618T>G rs886062713
NM_006096.4(NDRG1):c.*854G>A rs576857084
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile) rs568119325
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=) rs1287183324
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=) rs1467447359
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2]) rs763499117
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4]) rs1554747463
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) rs578199680
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del) rs745669327
NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg) rs140634799
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) rs1856819839
NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter) rs199928197
NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter)
NM_006096.4(NDRG1):c.307G>C (p.Ala103Pro) rs374160497
NM_006096.4(NDRG1):c.307G>T (p.Ala103Ser) rs374160497
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser) rs1856684767
NM_006096.4(NDRG1):c.327-1G>A rs2130727581
NM_006096.4(NDRG1):c.327-33C>T rs2233327
NM_006096.4(NDRG1):c.327-48C>G rs2233326
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu) rs574238421
NM_006096.4(NDRG1):c.389+92_594+1717dup
NM_006096.4(NDRG1):c.390-2A>G
NM_006096.4(NDRG1):c.410T>C (p.Met137Thr) rs1856491809
NM_006096.4(NDRG1):c.426C>T (p.Gly142=) rs370604799
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys) rs760921567
NM_006096.4(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.4(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.4(NDRG1):c.537+2_537+10del rs2130719557
NM_006096.4(NDRG1):c.538-1G>A rs11575976
NM_006096.4(NDRG1):c.538-5T>A rs1175681774
NM_006096.4(NDRG1):c.594+10G>A rs751843731
NM_006096.4(NDRG1):c.681dup (p.Ile228fs) rs879254290
NM_006096.4(NDRG1):c.698G>A (p.Ser233Asn)
NM_006096.4(NDRG1):c.943+5G>A rs778982295
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006096.4(NDRG1):c.951G>A (p.Ser317=) rs1310471207
NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp) rs141078746

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