ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type I by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.*1256G>A rs2979704 0.77789
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_006158.5(NEFL):c.*687G>C rs2976439 0.53745
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_006158.5(NEFL):c.*1107C>T rs3761 0.10372
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_006158.5(NEFL):c.*1643G>A rs8077 0.08320
NM_006158.5(NEFL):c.*426G>A rs73546943 0.06709
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_006158.5(NEFL):c.*378A>G rs17052849 0.04877
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_006158.5(NEFL):c.*1100C>T rs79736124 0.03959
NM_001136472.2(LITAF):c.-6+681dup rs398100090 0.02035
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_006158.5(NEFL):c.*883G>C rs76387248 0.01696
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_006158.5(NEFL):c.*1155T>G rs116881703 0.00773
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_006158.5(NEFL):c.*485A>G rs145103399 0.00252
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_001136472.2(LITAF):c.*686C>T rs190484543 0.00202
NM_001136472.2(LITAF):c.*68G>A rs189101115 0.00186
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_000304.4(PMP22):c.*173C>T rs117277951 0.00044
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_001136472.2(LITAF):c.*37G>C rs201429019 0.00032
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 0.00006
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_001136472.2(LITAF):c.-6+526_-6+527insT rs886051655 0.00002
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_001136472.2(LITAF):c.*1870C>T rs150472475 0.00001
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) rs189205303
NM_000399.5(EGR2):c.*1028A>G rs886047086
NM_000399.5(EGR2):c.*1080G>A rs886047085
NM_000399.5(EGR2):c.*814_*816del rs886047088
NM_000399.5(EGR2):c.-293ACTG[1] rs886047096
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_001136472.2(LITAF):c.*582dup rs71406254
NM_001136472.2(LITAF):c.*816dup rs758850868
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_006158.5(NEFL):c.*1198G>C rs4644268
NM_006158.5(NEFL):c.*1340_*1342del rs886062829
NM_006158.5(NEFL):c.*1609_*1612del rs886062826
NM_006158.5(NEFL):c.*235A>T rs1059111
NM_006158.5(NEFL):c.*407_*408del rs144391096
NM_006158.5(NEFL):c.*565del rs886062833

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