ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease, type I

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_006158.5(NEFL):c.*1256G>A rs2979704 0.77789
NM_000304.4(PMP22):c.178+22A>G rs231020 0.59479
NM_000304.4(PMP22):c.179-83T>C rs230950 0.56915
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_000304.4(PMP22):c.319+33C>T rs3744333 0.06039
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000304.4(PMP22):c.-34-216C>T rs151105938 0.01865
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_000399.5(EGR2):c.169+10G>T rs114201658 0.00953
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.179-17G>A rs77406217 0.00621
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro) rs146116229 0.00148
NM_000399.5(EGR2):c.909A>C (p.Ala303=) rs112474655 0.00101
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
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_000399.5(EGR2):c.534A>G (p.Ala178=) rs370084216 0.00030
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000304.4(PMP22):c.*890C>T rs546778557 0.00006
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00005
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586 0.00004
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
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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