List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	rs80338934	0.00004
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	rs80338926	0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	rs80338931	0.00003
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)	rs864622663	0.00001
NM_024577.4(SH3TC2):c.2128C>T (p.Gln710Ter)	rs753287764	0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)	rs80338930	0.00001
NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter)	rs757797985	0.00001
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)	rs864309709
NM_024577.4(SH3TC2):c.2305G>T (p.Glu769Ter)
NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)	rs879254317
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)	rs147895061
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)	rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)	rs864622664
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)	rs1222150652

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