List of variants studied for Charcot-Marie-Tooth disease by Institute of Human Genetics, University of Goettingen

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001370298.3(FGD4):c.789C>G (p.His263Gln)	rs757469397	0.00001
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)	rs1639431440	0.00001
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)	rs1262031967
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	rs879253954
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)	rs1653448255
NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)
NM_001370298.3(FGD4):c.1573dup (p.Ser525fs)
NM_001376.5(DYNC1H1):c.12722C>G (p.Ser4241Cys)	rs778752793
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr)	rs1567006359
NM_005391.5(PDK3):c.836A>G (p.Glu279Gly)	rs2148201759
NM_006158.5(NEFL):c.943_948dup (p.Lys315_Thr316dup)	rs1803035040
NM_021076.4(NEFH):c.883+1G>C	rs1602961831
NM_022489.4(INF2):c.286del (p.Leu96fs)
NM_024577.4(SH3TC2):c.3203A>G (p.Gln1068Arg)
NM_024577.4(SH3TC2):c.3675+2dup	rs1554120215
NM_181882.3(PRX):c.1012del (p.Ala338fs)	rs1555801290

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