List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2 by Baylor Genetics

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.461+2T>C	rs138199394	0.00015
NM_007254.4(PNKP):c.636+1G>T	rs1247055716	0.00004
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)	rs863224072	0.00003
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter)	rs863224074	0.00001
NM_002437.5(MPV17):c.375+2T>C	rs1054997754	0.00001
NM_002437.5(MPV17):c.71-1G>T	rs751134093	0.00001
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)	rs201369986	0.00001
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)	rs1653241392
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	rs1602510214
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)	rs1554338262
NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)
NM_002437.5(MPV17):c.139del (p.Gln47fs)	rs2148216335
NM_002437.5(MPV17):c.22C>T (p.Gln8Ter)	rs1679897519
NM_002437.5(MPV17):c.280-2del
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	rs267607257
NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer)
NM_002437.5(MPV17):c.354dup (p.Asn119fs)
NM_002437.5(MPV17):c.375+1G>A
NM_002437.5(MPV17):c.375+1G>T
NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter)	rs774833271
NM_002437.5(MPV17):c.461+1G>T
NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	rs886044113
NM_002437.5(MPV17):c.462-2A>C

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