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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	rs137852647	0.00001
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)	rs137852645
NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)	rs1554337974
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)	rs137852648

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