ClinVar Miner

List of variants in gene PMP22 reported as benign for Charcot-Marie-Tooth disease, type I

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
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_000304.4(PMP22):c.319+33C>T rs3744333 0.06039
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.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_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.152A>G (p.His51Arg) rs368908933 0.00005
NM_000304.4(PMP22):c.*376C>T rs575964802

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