List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2Q

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)	rs201369986	0.00001
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)	rs770649540	0.00001
NM_018706.7(DHTKD1):c.1409del (p.Gly470fs)	rs1281526839
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	rs606231237
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)	rs762729182
NM_018706.7(DHTKD1):c.2144G>A (p.Arg715His)
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)	rs1271803838

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