ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4D by Natera, Inc.

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ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
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.122A>G (p.His41Arg) rs2233318 0.00054
NM_006096.4(NDRG1):c.891+5G>A rs150968034 0.00044
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.664G>A (p.Gly222Ser) rs199995009 0.00015
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) rs191237702 0.00013
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.804C>T (p.Ala268=) rs754704497 0.00006
NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln) rs151322132 0.00005
NM_006096.4(NDRG1):c.205C>T (p.His69Tyr) rs373590447 0.00005
NM_006096.4(NDRG1):c.594+9C>T rs373172944 0.00004
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile) rs200593999 0.00003
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.731C>T (p.Pro244Leu) rs748984505 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.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.217T>C (p.Tyr73His) rs368584363 0.00001
NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957 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.643A>G (p.Ile215Val) rs1390282778 0.00001
NM_006096.4(NDRG1):c.699-3C>T rs931942837 0.00001
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp) rs537161398 0.00001
NM_006096.4(NDRG1):c.805G>A (p.Val269Met) rs750779893 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.1011G>A (p.Leu337=) rs1287183324
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.212C>A (p.Thr71Asn) rs1554591949
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.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.538-5T>A rs1175681774
NM_006096.4(NDRG1):c.594+10G>A rs751843731
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser) rs752290896
NM_006096.4(NDRG1):c.951G>A (p.Ser317=) rs1310471207
NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421

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