List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 1A by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)	rs104894618
NM_000304.4(PMP22):c.281del (p.Gly94fs)	rs80338763
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	rs104894625

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