List of variants studied for Charcot-Marie-Tooth disease type 4C by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	rs80338931	0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	rs80338934	0.00003
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925	0.00002
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	rs759785462	0.00001
NM_024577.4(SH3TC2):c.2627C>A (p.Ala876Glu)
NM_024577.4(SH3TC2):c.2756T>G (p.Leu919Ter)
NM_024577.4(SH3TC2):c.313C>T (p.Gln105Ter)
NM_024577.4(SH3TC2):c.3676-8G>A	rs772823083
NM_024577.4(SH3TC2):c.3692_3693del (p.Thr1231fs)
NM_024577.4(SH3TC2):c.731+1G>A
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)	rs1754320158

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