ClinVar Miner

List of variants in gene PMP22 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820 0.00014
NM_000304.4(PMP22):c.402C>T (p.Phe134=) rs536417866 0.00011
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933 0.00005
NM_000304.4(PMP22):c.477C>T (p.Arg159=) rs778132801 0.00002
NM_000304.4(PMP22):c.354G>T (p.Thr118=) rs776275784 0.00001
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732

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