ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP
NC_000008.11:g.(?_133236171)_(133298304_?)dup
NC_000008.11:g.133297281T>G
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_006096.3(NDRG1):c.*100G>A rs2233348
NM_006096.3(NDRG1):c.*1135G>A rs10675
NM_006096.3(NDRG1):c.*1195G>T rs561506934
NM_006096.3(NDRG1):c.*1294T>C rs144034977
NM_006096.3(NDRG1):c.*1296C>T rs886062711
NM_006096.3(NDRG1):c.*1340G>A rs12668
NM_006096.3(NDRG1):c.*1473G>A rs187466317
NM_006096.3(NDRG1):c.*1622T>G rs7825439
NM_006096.3(NDRG1):c.*1706G>A rs781277187
NM_006096.3(NDRG1):c.*184G>A rs778104868
NM_006096.3(NDRG1):c.*201A>T rs886062715
NM_006096.3(NDRG1):c.*264C>G rs73711834
NM_006096.3(NDRG1):c.*2C>T rs200367524
NM_006096.3(NDRG1):c.*306C>T rs886062714
NM_006096.3(NDRG1):c.*402C>T rs551081194
NM_006096.3(NDRG1):c.*618T>G rs886062713
NM_006096.3(NDRG1):c.*653T>C rs147301529
NM_006096.3(NDRG1):c.*677C>T rs886062712
NM_006096.3(NDRG1):c.*691G>A rs1049694
NM_006096.3(NDRG1):c.*69C>T rs114738844
NM_006096.3(NDRG1):c.*711C>T rs16904866
NM_006096.3(NDRG1):c.*834T>A rs79281324
NM_006096.3(NDRG1):c.*866A>T rs16904865
NM_006096.3(NDRG1):c.*956T>C rs1049697
NM_006096.3(NDRG1):c.-120C>T rs11575971
NM_006096.3(NDRG1):c.-123T>G rs886062718
NM_006096.3(NDRG1):c.-128C>T rs886062719
NM_006096.3(NDRG1):c.-157C>T rs545130040
NM_006096.3(NDRG1):c.-173G>A rs886062720
NM_006096.3(NDRG1):c.-19+14C>G rs886062716
NM_006096.3(NDRG1):c.-64G>A rs886062717
NM_006096.3(NDRG1):c.-8G>A rs200465804
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His) rs1392179290
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) rs144714216
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) rs1554747479
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln) rs775650624
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp) rs1209851405
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) rs181121989
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu) rs767058269
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) rs750369546
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) rs863224413
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=) rs774605205
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.129T>C (p.Ser43=) rs758024351
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg) rs140634799
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp) rs769720211
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln) rs151322132
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser) rs780329667
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.205C>T (p.His69Tyr) rs373590447
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly) rs1372913345
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr) rs374160497
NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro) rs374160497
NM_006096.3(NDRG1):c.307G>T (p.Ala103Ser) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.326+1G>A rs1586446057
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) rs200593999
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=) rs370604799
NM_006096.3(NDRG1):c.431A>G (p.Tyr144Cys) rs139220402
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro) rs781381539
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg) rs1586434783
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu) rs779194865
NM_006096.3(NDRG1):c.571G>A (p.Val191Met) rs749716207
NM_006096.3(NDRG1):c.582C>G (p.His194Gln) rs1305919985
NM_006096.3(NDRG1):c.594+8G>T rs767524421
NM_006096.3(NDRG1):c.595-6A>G rs1554749794
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) rs138839833
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys) rs147184316
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) rs143549909
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
NM_006096.3(NDRG1):c.681dup (p.Ile228fs) rs879254290
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.69C>A (p.Ile23=) rs369862936
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) rs772268356
NM_006096.3(NDRG1):c.704G>A (p.Arg235His) rs748331213
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.755+9C>T rs756756059
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala) rs201759485
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) rs368468160
NM_006096.3(NDRG1):c.855+14_855+15del rs780070007
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.891+5G>A rs150968034
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) rs753836263
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) rs368061370
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.944-13C>T rs753312340
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu) rs904186690
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) rs141078746
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006096.4(NDRG1):c.*1179G>C
NM_006096.4(NDRG1):c.*1299C>T
NM_006096.4(NDRG1):c.*1300G>C
NM_006096.4(NDRG1):c.*1339C>T
NM_006096.4(NDRG1):c.*1361C>A
NM_006096.4(NDRG1):c.*1621C>T
NM_006096.4(NDRG1):c.*228G>A
NM_006096.4(NDRG1):c.*308C>T
NM_006096.4(NDRG1):c.*31T>G
NM_006096.4(NDRG1):c.*377G>A
NM_006096.4(NDRG1):c.*392G>A
NM_006096.4(NDRG1):c.*403G>A
NM_006096.4(NDRG1):c.*48C>A
NM_006096.4(NDRG1):c.*525G>A
NM_006096.4(NDRG1):c.*791C>T
NM_006096.4(NDRG1):c.*854G>A
NM_006096.4(NDRG1):c.*91G>A
NM_006096.4(NDRG1):c.-18-2_-18-1del
NM_006096.4(NDRG1):c.-99A>G
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly)
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) rs578199680
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe)
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys)
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
NM_006096.4(NDRG1):c.135C>T (p.His45=) rs146924327
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)
NM_006096.4(NDRG1):c.165C>T (p.Asn55=) rs368056707
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)
NM_006096.4(NDRG1):c.195C>T (p.Ile65=) rs747826464
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
NM_006096.4(NDRG1):c.206-17T>G
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
NM_006096.4(NDRG1):c.285C>T (p.Asp95=) rs777855380
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) rs2233322
NM_006096.4(NDRG1):c.30C>T (p.Leu10=) rs758205425
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)
NM_006096.4(NDRG1):c.321C>T (p.Pro107=) rs1403681249
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser)
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
NM_006096.4(NDRG1):c.389+13G>C
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022
NM_006096.4(NDRG1):c.438A>C (p.Leu146=) rs772535207
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.450+2_450+3del
NM_006096.4(NDRG1):c.453A>G (p.Leu151=) rs776744445
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser)
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) rs191237702
NM_006096.4(NDRG1):c.594+10G>A rs751843731
NM_006096.4(NDRG1):c.594+9C>T rs373172944
NM_006096.4(NDRG1):c.595-2A>T
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
NM_006096.4(NDRG1):c.698+9A>G rs754728870
NM_006096.4(NDRG1):c.699-16C>G
NM_006096.4(NDRG1):c.699-3C>T
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)
NM_006096.4(NDRG1):c.702G>A (p.Arg234=) rs547082017
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln)
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser)
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys)
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala)
NM_006096.4(NDRG1):c.756-13T>C
NM_006096.4(NDRG1):c.756-5_756-4delinsTG
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr)
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val)
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)
NM_006096.4(NDRG1):c.805G>A (p.Val269Met)
NM_006096.4(NDRG1):c.855+8G>A rs776826543
NM_006096.4(NDRG1):c.856-5C>T rs767437478
NM_006096.4(NDRG1):c.856-9C>T rs772996128
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) rs745520295
NM_006096.4(NDRG1):c.891+2T>C
NM_006096.4(NDRG1):c.892-11G>A
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
NM_006096.4(NDRG1):c.975G>A (p.Arg325=) rs375099070
NM_006096.4(NDRG1):c.987C>T (p.Ala329=) rs778770054
NM_006096.4(NDRG1):c.999C>T (p.Ser333=) rs201505193
Single allele

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