ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4D by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
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.789G>A (p.Ser263=) rs61755062 0.00102
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.-123T>G rs886062718 0.00064
NM_006096.3(NDRG1):c.-157C>T rs545130040 0.00056
NM_006096.4(NDRG1):c.944-13C>T rs753312340 0.00039
NM_006096.4(NDRG1):c.-64G>A rs886062717 0.00035
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.*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.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.270C>T (p.Ala90=) rs200328537 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.*1195G>T rs561506934 0.00003
NM_006096.4(NDRG1):c.*306C>T rs886062714 0.00003
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys) rs530143616 0.00003
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile) rs200593999 0.00003
NM_006096.3(NDRG1):c.-173G>A rs886062720 0.00002
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.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.*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.-99A>G rs935238767 0.00001
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His) rs144714216 0.00001
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser) rs780329667 0.00001
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr) rs144310406 0.00001
NM_006096.3(NDRG1):c.-166A>C rs985517616
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.-128C>T rs886062719
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile) rs568119325
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=) rs1467447359
NM_006096.4(NDRG1):c.307G>C (p.Ala103Pro) rs374160497
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu) rs574238421
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.4(NDRG1):c.951G>A (p.Ser317=) rs1310471207
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp) rs141078746

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