ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_000399.5(EGR2):c.*646C>T rs555024997 0.00047
NM_000530.8(MPZ):c.*752G>A rs533147214 0.00034
NM_000530.8(MPZ):c.*341A>G rs557613782 0.00033
NM_000530.8(MPZ):c.*435T>G rs868502674 0.00026
NM_001136472.2(LITAF):c.*500A>G rs767760361 0.00024
NM_006158.5(NEFL):c.*1744T>C rs886062825 0.00022
NM_001136472.2(LITAF):c.*1364A>C rs775642546 0.00019
NM_001136472.2(LITAF):c.-6+539G>A rs545189325 0.00016
NM_001136472.2(LITAF):c.-6+657C>A rs374282727 0.00013
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 0.00013
NM_001136472.2(LITAF):c.*1054A>C rs967890581 0.00010
NM_001136472.2(LITAF):c.*598G>A rs367546754 0.00010
NM_000399.5(EGR2):c.*618T>C rs748486219 0.00009
NM_000530.8(MPZ):c.*1020G>A rs886045472 0.00007
NM_000530.8(MPZ):c.*102C>T rs774748921 0.00007
NM_001136472.2(LITAF):c.*1879A>G rs760630375 0.00006
NM_001136472.2(LITAF):c.310G>A (p.Val104Met) rs373445989 0.00006
NM_006158.5(NEFL):c.*1101G>A rs527471303 0.00006
NM_000530.8(MPZ):c.*681A>T rs886045474 0.00005
NM_001136472.2(LITAF):c.*882G>A rs535657236 0.00005
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_001136472.2(LITAF):c.*193G>A rs886051652 0.00004
NM_006158.5(NEFL):c.*1464A>G rs773097050 0.00004
NM_006158.5(NEFL):c.*1482C>T rs886062827 0.00004
NM_006158.5(NEFL):c.*51A>G rs538082598 0.00004
NM_000399.5(EGR2):c.*919G>C rs886047087 0.00003
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr) rs543022814 0.00003
NM_006158.5(NEFL):c.564C>G (p.Ala188=) rs1457926450 0.00003
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094 0.00002
NM_000530.8(MPZ):c.*522C>A rs900816889 0.00002
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_006158.5(NEFL):c.*1383C>T rs1172304666 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_000399.5(EGR2):c.*655G>A rs886047089 0.00001
NM_000399.5(EGR2):c.*79C>A rs1310299341 0.00001
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095 0.00001
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093 0.00001
NM_000530.8(MPZ):c.*1074A>C rs886045471 0.00001
NM_000530.8(MPZ):c.*369C>T rs1359055917 0.00001
NM_000530.8(MPZ):c.*903G>A rs1489097338 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_001136472.2(LITAF):c.*1170A>G rs886051648 0.00001
NM_001136472.2(LITAF):c.*1422A>G rs1005760992 0.00001
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val) rs201512884 0.00001
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr) rs368574479 0.00001
NM_006158.5(NEFL):c.*171C>G rs886062834 0.00001
NM_006158.5(NEFL):c.*856T>C rs886062831 0.00001
NM_006158.5(NEFL):c.141G>A (p.Val47=) rs886062835 0.00001
NM_000399.5(EGR2):c.*145T>A rs886047091
NM_000399.5(EGR2):c.*150A>G rs1055794746
NM_000399.5(EGR2):c.*230G>T rs1842147977
NM_000399.5(EGR2):c.*456G>A rs886047090
NM_000399.5(EGR2):c.-299G>A rs1842269401
NM_000399.5(EGR2):c.-64A>C rs1842261380
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly) rs886047092
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) rs121913602
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) rs1670257548
NM_001136472.2(LITAF):c.*1217A>C rs942172049
NM_001136472.2(LITAF):c.*1386G>A rs184312185
NM_001136472.2(LITAF):c.*1399C>A rs774513067
NM_001136472.2(LITAF):c.*1436T>G rs2064132273
NM_001136472.2(LITAF):c.*1557C>A rs886051647
NM_001136472.2(LITAF):c.*234C>A rs1370604103
NM_001136472.2(LITAF):c.*294A>T rs886051651
NM_001136472.2(LITAF):c.*33G>A rs766852963
NM_001136472.2(LITAF):c.*563A>C rs2064145331
NM_001136472.2(LITAF):c.*723A>G rs886051650
NM_001136472.2(LITAF):c.*949A>G rs886051649
NM_001136472.2(LITAF):c.-6+513G>C rs2064807880
NM_001136472.2(LITAF):c.-6+618C>G rs962811879
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136472.2(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr) rs2064215812
NM_006158.4(NEFL):c.-248C>G rs927020136
NM_006158.4(NEFL):c.-258C>G rs769348830
NM_006158.5(NEFL):c.*1153T>G rs1802971132
NM_006158.5(NEFL):c.*1342A>G rs886062830
NM_006158.5(NEFL):c.*1349T>G rs886062828
NM_006158.5(NEFL):c.*577T>C rs886062832
NM_006158.5(NEFL):c.-68T>A rs886062836
NM_006158.5(NEFL):c.516C>T (p.Arg172=) rs1803046250
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp) rs1797704362
NM_006158.5(NEFL):c.717G>A (p.Gln239=) rs1803041188

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