List of variants studied for Charcot-Marie-Tooth disease type 2 by GeneReviews

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	rs104894077	0.00015
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	rs137852647	0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)	rs370531212	0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078	0.00001
NM_000304.4(PMP22):c.281dup (p.Arg95fs)	rs80338763
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)	rs1554338260
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)	rs137852646
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)	rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)	rs137852644
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)	rs1554337369
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)	rs137852648
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro)	rs281865140
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	rs61491953

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