List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)	rs147531758	0.00123
NM_022041.4(GAN):c.730A>G (p.Ile244Val)	rs200749953	0.00051
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)	rs142451273	0.00051
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser)	rs199997425	0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	rs121909344	0.00010
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe)	rs587779385	0.00007
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His)	rs587781247	0.00003
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His)	rs587781252	0.00003
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)	rs148041889	0.00001
NM_022041.4(GAN):c.1084G>A (p.Glu362Lys)	rs587779384	0.00001
NM_022041.4(GAN):c.23C>G (p.Ser8Cys)	rs587781251	0.00001
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
NM_001261413.2(DCTN2):c.322C>T (p.His108Tyr)	rs863223327
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter)	rs587781249
NM_016156.6(MTMR2):c.*53G>A	rs587779387
Single allele

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