ClinVar Miner

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

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Total variants: 18
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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_006158.5(NEFL):c.*426G>A rs73546943 0.06709
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_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
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.*890C>T rs546778557 0.00006
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_001136472.2(LITAF):c.*582dup rs71406254
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_006158.5(NEFL):c.*235A>T rs1059111

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