List of variants studied for Charcot-Marie-Tooth disease by NeuroMeGen, Hospital Clinico Santiago de Compostela

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Total variants: 7

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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.3511C>T (p.Arg1171Cys)	rs759785462	0.00001
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_007289.4(MME):c.1666C>T (p.Pro556Ser)	rs1559961997
NM_007289.4(MME):c.1972G>A (p.Ala658Thr)	rs1559963660
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)	rs762729182
NM_024577.4(SH3TC2):c.2640del (p.Asn881fs)	rs1561764569

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